E10Q (p.Glu10Gln) variant of XPA (P23025)
E10Q (p.Glu10Gln) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- ExAC rs771752416
- gnomAD rs771752416
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.07
- AlphaMissense 0.09
- MetaLR 0.11
- MetaSVM -1.02
- CADD 12.90
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available