G6A (p.Gly6Ala) variant of XPA (P23025)
G6A (p.Gly6Ala) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- gnomAD rs1829086621
- Missense
- Variant Prioritization Score for Impact Estimate 0.0573
- REVEL 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available