R42G (p.Arg42Gly) variant of XPA (P23025)
R42G (p.Arg42Gly) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- TOPMed rs905874399
- gnomAD rs905874399
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- CADD 25.40
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available