G39A (p.Gly39Ala) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
G39A (p.Gly39Ala) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. 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.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- gnomAD rs1313608508
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.05
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available