C223Y (p.Cys223Tyr) variant of GLA (Alpha-galactosidase A)
C223Y (p.Cys223Tyr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C223Y (p.Cys223Tyr) variant details
- p.Cys223Tyr
- rs869312382
- ClinGen CA352720
- ClinVar RCV001194309
- ClinVar RCV001781620
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)