R49S (p.Arg49Ser) variant of GLA (Alpha-galactosidase A)
R49S (p.Arg49Ser) 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 not provided; Fabry disease. The record also includes published literature and structural context.
R49S (p.Arg49Ser) variant details
- p.Arg49Ser
- rs2520943698
- ClinGen CA413937009
- ClinVar RCV003135372
- ClinVar RCV005645450
- Pathogenic/Likely pathogenic
- not provided; Fabry disease
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other… (PMID 8875188)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)