R39C (p.Arg39Cys) variant of XPA (P23025)
R39C (p.Arg39Cys) in XPA (P23025) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R39C (p.Arg39Cys) variant details
- p.Arg39Cys
- TOPMed rs1297020806
- gnomAD rs1297020806
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.45
- CADD 32.00
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available