I76V (p.Ile76Val) variant of XPA (P23025)
I76V (p.Ile76Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- Ensembl rs1564050421
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available