C52R (p.Cys52Arg) variant of GLA (Alpha-galactosidase A)
C52R (p.Cys52Arg) 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 0.90 / 1. The record also includes published literature and structural context.
C52R (p.Cys52Arg) variant details
- p.Cys52Arg
- rs1057521047
- ClinGen CA16609111
- ClinVar RCV000424225
- ClinVar RCV001807250
- Pathogenic
- not provided; 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 (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A… (PMID 8807334)
- Cited in: Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection… (PMID 8931708)