E17D (p.Glu17Asp) variant of ERCC4 (DNA repair endonuclease XPF)
E17D (p.Glu17Asp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- gnomAD 16-13920216-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available