V33L (p.Val33Leu) variant of ERCC4 (DNA repair endonuclease XPF)
V33L (p.Val33Leu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- rs34205098
- UniProt VAR 057477
- Ensembl rs34205098
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.04
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.46
- Population evidence available
- Structural context available