C66Y (p.Cys66Tyr) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
C66Y (p.Cys66Tyr) in XIAP (E3 ubiquitin-protein ligase XIAP) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
C66Y (p.Cys66Tyr) variant details
- p.Cys66Tyr
- rs2148089447
- ClinGen CA414122917
- ClinVar RCV001532709
- Ensembl rs2148089447
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available