A7D (p.Ala7Asp) variant of ERCC4 (DNA repair endonuclease XPF)
A7D (p.Ala7Asp) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 16-13920185-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.24
- CADD 17.20
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available