A15E (p.Ala15Glu) variant of GLA (Alpha-galactosidase A)
A15E (p.Ala15Glu) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- rs869312304
- ClinGen CA352491
- ClinVar RCV003041471
- TOPMed rs869312304
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.23
- MetaLR 0.98
- MetaSVM 2.27
- PolyPhen-2 0.53
- SIFT 0.14
- MutPred 0.65
- ClinVar: Pathogenic (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)