H46Y (p.His46Tyr) variant of GLA (Alpha-galactosidase A)
H46Y (p.His46Tyr) 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 0.84 / 1. The record also includes published literature and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- rs1928582757
- ClinGen CA413937089
- ClinVar RCV001280630
- UniProt VAR 012368
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.48
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.79
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: 20 novel GLA mutations in 35 families. (PMID 11668641)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)