E17G (p.Glu17Gly) variant of ERCC4 (DNA repair endonuclease XPF)
E17G (p.Glu17Gly) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E17G (p.Glu17Gly) variant details
- p.Glu17Gly
- Ensembl rs1596616470
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- CADD 31.00
- PolyPhen-2 0.80
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available