A11T (p.Ala11Thr) variant of ERCC4 (DNA repair endonuclease XPF)
A11T (p.Ala11Thr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- ExAC rs767738598
- TOPMed rs767738598
- gnomAD rs767738598
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- CADD 17.80
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available