Q40R (p.Gln40Arg) variant of XPA (P23025)
Q40R (p.Gln40Arg) 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.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- Ensembl rs1829077998
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.13
- CADD 25.00
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available