C94S (p.Cys94Ser) variant of GLA (Alpha-galactosidase A)
C94S (p.Cys94Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C94S (p.Cys94Ser) variant details
- p.Cys94Ser
- rs2147480697
- ClinGen CA413933715
- ClinVar RCV001374745
- UniProt VAR 012379
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.80
- 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: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)