E48Q (p.Glu48Gln) variant of GLA (Alpha-galactosidase A)
E48Q (p.Glu48Gln) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in FABRYD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- rs398123204
- ClinGen CA021544
- ClinVar RCV000078269
- ClinVar RCV005644508
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.18
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.18
- EVE 0.28
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- 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)