A3V (p.Ala3Val) variant of XPA (P23025)
A3V (p.Ala3Val) in XPA (P23025) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1440375480
- NCI-TCGA Cosmic COSV1009
- TOPMed rs1440375480
- gnomAD rs1440375480
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.03
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available