L27H (p.Leu27His) variant of ERCC4 (DNA repair endonuclease XPF)
L27H (p.Leu27His) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L27H (p.Leu27His) variant details
- p.Leu27His
- Ensembl rs1040349747
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.15
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.07
- Population evidence available
- Structural context available