R42P (p.Arg42Pro) variant of XPA (P23025)
R42P (p.Arg42Pro) 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.
R42P (p.Arg42Pro) variant details
- p.Arg42Pro
- TOPMed rs1829077192
- gnomAD rs1829077192
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.30
- CADD 27.60
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available