S297C (p.Ser297Cys) variant of GLA (Alpha-galactosidase A)
S297C (p.Ser297Cys) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
S297C (p.Ser297Cys) variant details
- p.Ser297Cys
- rs28935489
- ClinGen CA352262
- ClinVar RCV000277132
- ClinVar RCV005645041
- Conflicting interpretations
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Conflicting classifications of pathogenicity (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)