S148R (p.Ser148Arg) variant of GLA (Alpha-galactosidase A)
S148R (p.Ser148Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
S148R (p.Ser148Arg) variant details
- p.Ser148Arg
- rs1569304190
- ClinGen CA413929898
- ClinVar RCV000781430
- ClinVar RCV003372841
- Uncertain significance
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (PMID 10666480)
- Cited in: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (PMID 9100224)