G4W (p.Gly4Trp) variant of ERCC4 (DNA repair endonuclease XPF)
G4W (p.Gly4Trp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- gnomAD 16-13920175-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.56
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available