V62I (p.Val62Ile) variant of XPA (P23025)
V62I (p.Val62Ile) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- TOPMed rs1476014427
- gnomAD rs1476014427
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.06
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available