G4A (p.Gly4Ala) variant of ERCC4 (DNA repair endonuclease XPF)
G4A (p.Gly4Ala) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G4A (p.Gly4Ala) variant details
- p.Gly4Ala
- gnomAD 16-13920175-G-GCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available