V3A (p.Val3Ala) variant of ERCC5 (P28715)
V3A (p.Val3Ala) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- gnomAD 13-102846274-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available