E48D (p.Glu48Asp) variant of GLA (Alpha-galactosidase A)
E48D (p.Glu48Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- rs869312254
- ClinVar RCV005645761
- UniProt VAR 077374
- Ensembl rs869312254
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)