C223R (p.Cys223Arg) variant of GLA (Alpha-galactosidase A)
C223R (p.Cys223Arg) 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 Hypertrophic cardiomyopathy; Fabry disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C223R (p.Cys223Arg) variant details
- p.Cys223Arg
- rs869312381
- ClinGen CA413925007
- ClinVar RCV000618471
- ClinVar RCV001270059
- Pathogenic/Likely pathogenic
- Hypertrophic cardiomyopathy; Fabry disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Hypertrophic cardiomyopathy; Fabry disease; Cardiovascular pheno)
- 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)