V80A (p.Val80Ala) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
V80A (p.Val80Ala) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V80A (p.Val80Ala) variant details
- p.Val80Ala
- gnomAD X-123885901-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.23
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available