C52S (p.Cys52Ser) variant of GLA (Alpha-galactosidase A)
C52S (p.Cys52Ser) 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 0.93 / 1. The record also includes published literature and structural context.
C52S (p.Cys52Ser) variant details
- p.Cys52Ser
- rs869312256
- ClinVar RCV005644869
- UniProt VAR 000437
- Ensembl rs869312256
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional… (PMID 7531540)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)