A2V (p.Ala2Val) variant of XPC (Q01831)
A2V (p.Ala2Val) in XPC (Q01831) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1047160068
- gnomAD rs1047160068
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.14
- CADD 9.41
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available