A11D (p.Ala11Asp) variant of ERCC4 (DNA repair endonuclease XPF)
A11D (p.Ala11Asp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A11D (p.Ala11Asp) variant details
- p.Ala11Asp
- gnomAD 16-13920197-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available