E2D (p.Glu2Asp) variant of ERCC4 (DNA repair endonuclease XPF)
E2D (p.Glu2Asp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 16-13920171-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available