A7S (p.Ala7Ser) variant of ERCC4 (DNA repair endonuclease XPF)
A7S (p.Ala7Ser) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 16-13920184-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available