P47R (p.Pro47Arg) variant of XPA (P23025)
P47R (p.Pro47Arg) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P47R (p.Pro47Arg) variant details
- p.Pro47Arg
- rs2490246360
- ClinGen CA2697557943
- ClinVar RCV003563816
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.35
- CADD 31.00
- PolyPhen-2 0.82
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available