R46W (p.Arg46Trp) variant of XPA (P23025)
R46W (p.Arg46Trp) in XPA (P23025) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- gnomAD rs1277630830
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.29
- CADD 32.00
- PolyPhen-2 0.66
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available