I31V (p.Ile31Val) variant of ERCC5 (P28715)
I31V (p.Ile31Val) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- TOPMed rs1452267228
- gnomAD rs1452267228
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 24.10
- PolyPhen-2 0.70
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00019)