M1A (p.Met1Ala) variant of GLA (Alpha-galactosidase A)
M1A (p.Met1Ala) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
M1A (p.Met1Ala) variant details
- p.Met1Ala
- rs2147487930
- ClinGen CA2573159130
- ClinVar RCV001939379
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)