G43V (p.Gly43Val) variant of GLA (Alpha-galactosidase A)
G43V (p.Gly43Val) 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.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- rs1928583820
- ClinGen CA413937161
- ClinVar RCV001193639
- Ensembl rs1928583820
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Fabry disease)
- 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)