A79E (p.Ala79Glu) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
A79E (p.Ala79Glu) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A79E (p.Ala79Glu) variant details
- p.Ala79Glu
- gnomAD X-123885898-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.62
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available