I69V (p.Ile69Val) variant of XPA (P23025)
I69V (p.Ile69Val) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I69V (p.Ile69Val) variant details
- p.Ile69Val
- gnomAD rs1235353864
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.06
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available