R25Q (p.Arg25Gln) variant of XPA (P23025)
R25Q (p.Arg25Gln) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- TOPMed rs1033405989
- gnomAD rs1033405989
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.18
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available