A13V (p.Ala13Val) variant of ERCC4 (DNA repair endonuclease XPF)
A13V (p.Ala13Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs751008601
- TOPMed rs751008601
- gnomAD rs751008601
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available