A11S (p.Ala11Ser) variant of ERCC4 (DNA repair endonuclease XPF)
A11S (p.Ala11Ser) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- cosmic curated COSV10588
- ExAC rs767738598
- TOPMed rs767738598
- gnomAD rs767738598
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available