G6E (p.Gly6Glu) variant of XPA (P23025)
G6E (p.Gly6Glu) 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.
G6E (p.Gly6Glu) variant details
- p.Gly6Glu
- gnomAD rs1829086621
- Missense
- Variant Prioritization Score for Impact Estimate 0.0633
- REVEL 0.05
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available