A34V (p.Ala34Val) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
A34V (p.Ala34Val) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD rs1300855425
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- CADD 18.20
- PolyPhen-2 0.17
- SIFT 0.53
- Most common in the Latino/Admixed American population (allele frequency 8.5e-05)
- Structural context available