L26V (p.Leu26Val) variant of ERCC4 (DNA repair endonuclease XPF)
L26V (p.Leu26Val) 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.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- gnomAD rs1177929089
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.06
- Population evidence available
- Structural context available