R34W (p.Arg34Trp) variant of XPA (P23025)
R34W (p.Arg34Trp) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- TOPMed rs1424881212
- gnomAD rs1424881212
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available