C52G (p.Cys52Gly) variant of GLA (Alpha-galactosidase A)
C52G (p.Cys52Gly) 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 Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
C52G (p.Cys52Gly) variant details
- p.Cys52Gly
- rs1057521047
- ClinGen CA413936907
- ClinVar RCV001193640
- Ensembl rs1057521047
- Pathogenic/Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)