A7S (p.Ala7Ser) variant of XPA (P23025)
A7S (p.Ala7Ser) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- ExAC rs776601238
- TOPMed rs776601238
- gnomAD rs776601238
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.057
- REVEL 0.05
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.62
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available