M76T (p.Met76Thr) variant of GLA (Alpha-galactosidase A)
M76T (p.Met76Thr) 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 Fabry disease; not provided. The record also includes published literature and structural context.
M76T (p.Met76Thr) variant details
- p.Met76Thr
- rs2520914744
- ClinGen CA16602197
- ClinVar RCV003066355
- ClinVar RCV003491210
- Conflicting interpretations
- Fabry disease; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Fabry disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely 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)