C56G (p.Cys56Gly) variant of GLA (Alpha-galactosidase A)
C56G (p.Cys56Gly) 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.
C56G (p.Cys56Gly) variant details
- p.Cys56Gly
- rs104894836
- ClinGen CA021558
- ClinVar RCV000011472
- UniProt VAR 000439
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (PMID 7504405)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)