G31W (p.Gly31Trp) variant of ERCC4 (DNA repair endonuclease XPF)
G31W (p.Gly31Trp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G31W (p.Gly31Trp) variant details
- p.Gly31Trp
- gnomAD 16-13920256-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.62
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available