G4V (p.Gly4Val) variant of ERCC4 (DNA repair endonuclease XPF)
G4V (p.Gly4Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G4V (p.Gly4Val) variant details
- p.Gly4Val
- gnomAD 16-13920176-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.05
- CADD 14.30
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available