W47R (p.Trp47Arg) variant of GLA (Alpha-galactosidase A)
W47R (p.Trp47Arg) 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.
W47R (p.Trp47Arg) variant details
- p.Trp47Arg
- UniProt VAR 076478
- 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: A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family. (PMID 27211852)
- Cited in: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the… (PMID 10090526)