E59V (p.Glu59Val) variant of GLA (Alpha-galactosidase A)
E59V (p.Glu59Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The record also includes published literature and structural context.
E59V (p.Glu59Val) variant details
- p.Glu59Val
- rs2520943061
- ClinGen CA413936733
- ClinVar RCV003622772
- Likely pathogenic
- Fabry disease
- Missense
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely 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)