E17Q (p.Glu17Gln) variant of ERCC4 (DNA repair endonuclease XPF)
E17Q (p.Glu17Gln) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- ESP rs368281878
- TOPMed rs368281878
- gnomAD rs368281878
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.18
- CADD 29.90
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available