C56Y (p.Cys56Tyr) variant of GLA (Alpha-galactosidase A)
C56Y (p.Cys56Tyr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
C56Y (p.Cys56Tyr) variant details
- p.Cys56Tyr
- rs869312258
- ClinGen CA352477
- ClinVar RCV001379650
- UniProt VAR 012372
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other… (PMID 8875188)