A36S (p.Ala36Ser) variant of ERCC4 (DNA repair endonuclease XPF)
A36S (p.Ala36Ser) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- gnomAD 16-13920271-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.32
- CADD 25.50
- PolyPhen-2 0.86
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available