R37L (p.Arg37Leu) variant of ERCC4 (DNA repair endonuclease XPF)
R37L (p.Arg37Leu) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- gnomAD 16-13920275-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- CADD 25.90
- PolyPhen-2 0.38
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available