G31V (p.Gly31Val) variant of ERCC4 (DNA repair endonuclease XPF)
G31V (p.Gly31Val) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- gnomAD 16-13920257-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.57
- CADD 30.00
- PolyPhen-2 0.75
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available