S297Y (p.Ser297Tyr) variant of GLA (Alpha-galactosidase A)
S297Y (p.Ser297Tyr) 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 Fabry disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
S297Y (p.Ser297Tyr) variant details
- p.Ser297Tyr
- rs28935489
- ClinGen CA413922381
- ClinVar RCV002543011
- ClinVar RCV004812398
- Pathogenic/Likely pathogenic
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.98
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease; not provided)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- 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)