W47G (p.Trp47Gly) variant of GLA (Alpha-galactosidase A)
W47G (p.Trp47Gly) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The record also includes published literature and structural context.
W47G (p.Trp47Gly) variant details
- p.Trp47Gly
- UniProt VAR 012369
- Pathogenic
- Fabry disease
- Missense
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: 20 novel GLA mutations in 35 families. (PMID 11668641)
- Cited in: A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. (PMID 27211852)