R46L (p.Arg46Leu) variant of XPA (P23025)
R46L (p.Arg46Leu) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- rs1217308115
- ClinGen CA374188405
- ClinVar RCV002261870
- TOPMed rs1217308115
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- CADD 28.90
- PolyPhen-2 0.46
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.1e-05)
- Structural context available