A48V (p.Ala48Val) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
A48V (p.Ala48Val) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- TOPMed rs2053345657
- gnomAD rs2053345657
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.81
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available