D30Y (p.Asp30Tyr) variant of ERCC4 (DNA repair endonuclease XPF)
D30Y (p.Asp30Tyr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D30Y (p.Asp30Tyr) variant details
- p.Asp30Tyr
- gnomAD 16-13920253-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available