G13V (p.Gly13Val) variant of XPC (Q01831)
G13V (p.Gly13Val) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- ExAC rs757229651
- gnomAD rs757229651
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.16
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available