S148N (p.Ser148Asn) variant of GLA (Alpha-galactosidase A)
S148N (p.Ser148Asn) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S148N (p.Ser148Asn) variant details
- p.Ser148Asn
- rs1555985829
- ClinGen CA16602201
- ClinVar RCV000597745
- ClinVar RCV001860148
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.65
- MetaLR 0.99
- MetaSVM 1.13
- PolyPhen-2 1.00
- SIFT 0.72
- EVE 0.37
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)