A22S (p.Ala22Ser) variant of XPA (P23025)
A22S (p.Ala22Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- TOPMed rs1829083313
- gnomAD rs1829083313
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available