R30W (p.Arg30Trp) variant of XPA (P23025)
R30W (p.Arg30Trp) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- Ensembl rs777449731
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.44
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available