H46R (p.His46Arg) variant of GLA (Alpha-galactosidase A)
H46R (p.His46Arg) 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.
H46R (p.His46Arg) variant details
- p.His46Arg
- rs398123203
- ClinGen CA021532
- ClinVar RCV000173078
- ClinVar RCV005645031
- 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: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (PMID 9100224)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)