G43R (p.Gly43Arg) variant of GLA (Alpha-galactosidase A)
G43R (p.Gly43Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs886044906
- ClinGen CA413937174
- ClinVar RCV001956188
- UniProt VAR 062552
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID 15712228)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)