A41V (p.Ala41Val) variant of XPA (P23025)
A41V (p.Ala41Val) 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; Xeroderma pigmentosum group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- rs778289269
- ClinGen CA5148912
- ClinVar RCV001761804
- ClinVar RCV002540729
- Uncertain significance
- not provided; Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.48
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Xeroderma pigmentosum group A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00092)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)