C172Y (p.Cys172Tyr) variant of GLA (Alpha-galactosidase A)
C172Y (p.Cys172Tyr) 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 0.92 / 1. The record also includes published literature and structural context.
C172Y (p.Cys172Tyr) variant details
- p.Cys172Tyr
- rs869312318
- ClinGen CA352479
- ClinVar RCV001783366
- ClinVar RCV002503264
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.93
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (not provided; 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)