M1V (p.Met1Val) variant of GLA (Alpha-galactosidase A)
M1V (p.Met1Val) 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 Cardiovascular phenotype; not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs869312265
- ClinGen CA352616
- ClinVar RCV001783375
- ClinVar RCV003375362
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MetaLR 0.98
- MetaSVM 1.46
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Fabry disease)
- 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)