H46L (p.His46Leu) variant of GLA (Alpha-galactosidase A)
H46L (p.His46Leu) 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 0.91 / 1. The record also includes published literature and structural context.
H46L (p.His46Leu) variant details
- p.His46Leu
- rs398123203
- ClinGen CA021538
- ClinVar RCV000078268
- ClinVar RCV005644507
- Pathogenic
- in FABRYD
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.77
- 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)