A348P (p.Ala348Pro) variant of GLA (Alpha-galactosidase A)
A348P (p.Ala348Pro) 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 Fabry disease; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A348P (p.Ala348Pro) variant details
- p.Ala348Pro
- rs1603037717
- ClinGen CA413921117
- ClinVar RCV000845520
- ClinVar RCV005645189
- Pathogenic/Likely pathogenic
- Fabry disease; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.40
- MetaLR 0.99
- MetaSVM 1.18
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease; Primary familial hypertrophic cardiomyopathy)
- 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)