PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2)
Score interval of each of 13 missense predictors for four BP4 and four PP3 evidence strengths, from the ClinGen SVI calibration.
Overview
An explanatory profile has not yet been reviewed for this record.
Consult the linked sources for architecture or protocol details. Missing evidence is not evidence of a missing capability.
13 recorded evaluations, 104 metric rows. A comparison chart has not yet been validated for these results. The table retains the individual findings and their sources.
Results
Results are available, but no reviewed comparison panel is linked in this release.
All evaluations
13 evaluations · 104 results. Different protocols are not a single leaderboard.
Filter evaluations
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≤ −0.36 Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Moderate' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (BP4 Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Strong' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | (−0.36, −0.18] Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Supporting' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (BP4 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Benign (BP4): Very Strong' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | [0.27, 0.50) Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Moderate' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≥0.5 Evidence strength score interval (PP3 Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Strong' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | [0.13, 0.27) Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Supporting' |
| Configuration: BayesDel (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (PP3 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceBayesDel: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'BayesDel', column 'Pathogenic (PP3): Very Strong' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | (0.15, 17.3] Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Benign (BP4): Moderate' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≤0.15 Evidence strength score interval (BP4 Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Benign (BP4): Strong' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | (17.3, 22.7] Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Benign (BP4): Supporting' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (BP4 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Benign (BP4): Very Strong' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≥28.1 Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Pathogenic (PP3): Moderate' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (PP3 Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Pathogenic (PP3): Strong' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | [25.3, 28.1) Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Pathogenic (PP3): Supporting' |
| Configuration: CADD (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (PP3 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceCADD: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'CADD', column 'Pathogenic (PP3): Very Strong' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≤0.069 Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Benign (BP4): Moderate' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (BP4 Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Benign (BP4): Strong' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | (0.069, 0.262] Evidence strength score interval (BP4 Supporting, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Benign (BP4): Supporting' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (BP4 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Benign (BP4): Very Strong' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≥0.821 Evidence strength score interval (PP3 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Pathogenic (PP3): Moderate' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (PP3 Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Pathogenic (PP3): Strong' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | [0.685, 0.821) Evidence strength score interval (PP3 Supporting, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Pathogenic (PP3): Supporting' |
| Configuration: EA (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | – Evidence strength score interval (PP3 Very Strong, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not applicable: Strength not reached Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceEA: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'EA', column 'Pathogenic (PP3): Very Strong' |
| Configuration: FATHMM (Pejaver et al. 2022 calibration) | Protocol: PP3/BP4 score intervals per evidence strength (Pejaver et al. 2022 Table 2) Dataset: ClinVar 2019 calibration set (Pejaver et al. 2022) | ≥4.69 Evidence strength score interval (BP4 Moderate, ClinGen SVI calibration (Pejaver et al. 2022)) unitless · unknown Uncertainty: Not yet extracted: One-sided confidence intervals are in Table S1, not retrieved Coverage: Not reported scored / Not reported eligible | Independent external evaluation · Source checkedMethods, coverage and sourceFATHMM: PP3/BP4 score intervals (Pejaver et al. 2022) vep-uc-20261014-protocol-pejaver2022-intervals Aggregation: Not reported Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Table 2, row 'FATHMM', column 'Benign (BP4): Moderate' |
Source checking is not independent reproduction. Release 2026-10-22-1b7cf027e4f6.
Methods and evaluation design
Procedure, tasks and evaluated configurations
Recorded evaluations
Each evaluation records what was tested and under which conditions.
- BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)
- CADD: PP3/BP4 score intervals (Pejaver et al. 2022)
- EA: PP3/BP4 score intervals (Pejaver et al. 2022)
- FATHMM: PP3/BP4 score intervals (Pejaver et al. 2022)
- GERP++: PP3/BP4 score intervals (Pejaver et al. 2022)
- MPC: PP3/BP4 score intervals (Pejaver et al. 2022)
- MutPred2: PP3/BP4 score intervals (Pejaver et al. 2022)
- PhyloP: PP3/BP4 score intervals (Pejaver et al. 2022)
- PolyPhen2: PP3/BP4 score intervals (Pejaver et al. 2022)
- PrimateAI: PP3/BP4 score intervals (Pejaver et al. 2022)
- REVEL: PP3/BP4 score intervals (Pejaver et al. 2022)
- SIFT: PP3/BP4 score intervals (Pejaver et al. 2022)
Baseline coverage
Reference methods help show what a model adds beyond simple controls. We track a null control and a conventional method for each protocol.
0 of 2 active baseline roles have published Rewire measurements in this release. Measurements on a selected protocol do not establish coverage of an entire suite.
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- Author-reported evaluations
- 5
- External evaluations
- 8
Literature evidence is not a Rewire measurement. Executed but unpublished runs and private review status are not included.
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Conventional reference
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Protocol coverage CSV (gzip) · Model evaluation matrix (gzip) · Source table (gzip) · Release and checksums (gzip)
Coverage is derived from release 2026-10-22-1b7cf027e4f6. Source citations describe the original records; they do not validate an unreviewed baseline proposal. No results have been generated by this audit.
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Strengths, limitations and unresolved questions
Evidence
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Evidence table
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Sources and history
Release 2026-10-22-1b7cf027e4f6 · Record review: source checked
1 source record and release history
- Pejaver et al. 2022, Am J Hum Genet 109:2163 (Europe PMC full text XML) · Original source · PMC9748256 (Am J Hum Genet 2022;109(12):2163)
Technical metadata and extraction receipts
Stable ID: vep-uc-20261014-protocol-pejaver2022-intervals
- areas
- dna-genomes
- contexts
- clinical_research
- protocol
- Calibrate each tool's scores on the ClinVar 2019 set and report the score interval that reaches each of Supporting, Moderate, Strong and Very Strong for BP4 and PP3; '–' where the strength is not reached.
- task
- Calibrated PP3/BP4 score thresholds
- metric
- evidence-strength-score-interval
- metric direction
- unknown
- unit
- unitless
- metric implementation
- Local posterior probability of pathogenicity estimated in a sliding score window on the ClinVar 2019 set with prior 0.0441; a threshold is the most lenient score at which the one-sided 95% bootstrap bound (10,000 iterations) of the local positive likelihood ratio still reaches the cut-off for that strength (2.406, 5.790, 33.53, 1,124; reciprocals for BP4)
- version
- Pejaver et al. 2022, Table 2
- publication status
- peer_reviewed
- denominator
- 11834
- source locator
- Table 2 and footnote; Methods 'Statistical framework' and 'Estimation of thresholds'
- limitations
- Calibration is genome-wide (average over genes); Tejura et al. 2024 report that about 70% of the gene-level REVEL and BayesDel intervals with enough control variants exceeded the number of incorrect predictions the genome-wide recommendations imply.; Labels are ClinVar classifications; the authors assume computational evidence had no major role in them (Stenton et al. 2024, Table 1).; Developers of BayesDel, MPC, MutPred2, REVEL and VEST4 are authors of Pejaver et al. 2022 (see the benchmark record).; Intervals follow mathematical notation: '(' and ')' exclude the end value, '[' and ']' include it (Table 2 footnote).; Point estimates and confidence bounds per threshold are in Table S1, not retrieved.
- review
- reviewer: claude; reviewer note: Claude review agent; no human review claimed. Independent Claude (Opus 5.5) review agent, separate from the extraction agent that built this batch. Automated review only. Transcription, not reproduction.; reviewed at: 2026-10-14T16:00:00Z; artifact sha256: a78c7bcaacb0ccb72291264bbe7c1f9a16867b0c6207dcbb45c3c59a14af6b3b; retrieval url: https://www.ebi.ac.uk/europepmc/webservices/rest/PMC9748256/fullTextXML; method: source-hash-verification; ai-assisted-source-review; method note: Checked against the Methods, table captions and author lists of the pinned sources.; note: Checked; see the dated review for rulings on origin and carried-over rows.
Related records
- part of: ClinGen SVI calibration of computational predictors for PP3/BP4
- uses data: ClinVar 2019 calibration set (Pejaver et al. 2022)
- assessed by: Use calibrated computational evidence for missense variants (PP3/BP4)
- assessment: BayesDel: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: CADD: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: EA: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: FATHMM: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: GERP++: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: MPC: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: MutPred2: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: PhyloP: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: PolyPhen2: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: PrimateAI: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: REVEL: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: SIFT: PP3/BP4 score intervals (Pejaver et al. 2022)
- assessment: VEST4: PP3/BP4 score intervals (Pejaver et al. 2022)