Y207C (p.Tyr207Cys) variant of GLA (Alpha-galactosidase A)
Y207C (p.Tyr207Cys) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y207C (p.Tyr207Cys) variant details
- p.Tyr207Cys
- rs797044727
- ClinGen CA021845
- ClinVar RCV000178050
- ClinVar RCV005645032
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.93
- AlphaMissense 0.52
- MetaLR 1.00
- MetaSVM 0.87
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)