R301G (p.Arg301Gly) variant of GLA (Alpha-galactosidase A)
R301G (p.Arg301Gly) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R301G (p.Arg301Gly) variant details
- p.Arg301Gly
- rs398123224
- ClinGen CA022178
- ClinVar RCV000156338
- ClinVar RCV000823627
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- AlphaMissense 0.52
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- 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)