G56D (p.Gly56Asp) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
G56D (p.Gly56Asp) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G56D (p.Gly56Asp) variant details
- p.Gly56Asp
- gnomAD rs1241696710
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.85
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available