T29A (p.Thr29Ala) variant of ERCC4 (DNA repair endonuclease XPF)
T29A (p.Thr29Ala) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- ExAC rs765069053
- gnomAD rs765069053
- Missense
- Variant Prioritization Score for Impact Estimate 0.098
- REVEL 0.05
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available