Y54H (p.Tyr54His) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
Y54H (p.Tyr54His) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- gnomAD X-123885822-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.68
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available