A13G (p.Ala13Gly) variant of XPA (P23025)
A13G (p.Ala13Gly) in XPA (P23025) 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.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- ExAC rs778123456
- gnomAD rs778123456
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.04
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available