H46A (p.His46Ala) variant of GLA (Alpha-galactosidase A)
H46A (p.His46Ala) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in FABRYD. The record also includes published literature and structural context.
H46A (p.His46Ala) variant details
- p.His46Ala
- rs2147487148
- ClinGen CA2573055058
- ClinVar RCV001754536
- Likely pathogenic
- in FABRYD
- Missense
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)