M290T (p.Met290Thr) variant of GLA (Alpha-galactosidase A)
M290T (p.Met290Thr) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary familial hypertrophic cardiomyopathy; 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.
M290T (p.Met290Thr) variant details
- p.Met290Thr
- rs1603038411
- ClinGen CA413922640
- ClinVar RCV000845515
- ClinVar RCV005645188
- Pathogenic/Likely pathogenic
- Primary familial hypertrophic cardiomyopathy; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.51
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Primary familial hypertrophic cardiomyopathy; Fabry disease)
- 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)