R37H (p.Arg37His) variant of ERCC4 (DNA repair endonuclease XPF)
R37H (p.Arg37His) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- cosmic curated COSV61311
- Ensembl rs2141937217
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.23
- CADD 30.00
- PolyPhen-2 0.63
- SIFT 0.01
- Population evidence available
- Structural context available