C56F (p.Cys56Phe) variant of GLA (Alpha-galactosidase A)
C56F (p.Cys56Phe) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C56F (p.Cys56Phe) variant details
- p.Cys56Phe
- rs869312258
- ClinGen CA352731
- ClinVar RCV001193044
- ClinVar RCV005348077
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; 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)