C35W (p.Cys35Trp) variant of ERCC4 (DNA repair endonuclease XPF)
C35W (p.Cys35Trp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
C35W (p.Cys35Trp) variant details
- p.Cys35Trp
- gnomAD 16-13920270-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.36
- CADD 24.90
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available