A7V (p.Ala7Val) variant of XPC (Q01831)
A7V (p.Ala7Val) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- ExAC rs748121825
- TOPMed rs748121825
- gnomAD rs748121825
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.08
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available