R4M (p.Arg4Met) variant of GLA (Alpha-galactosidase A)
R4M (p.Arg4Met) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R4M (p.Arg4Met) variant details
- p.Arg4Met
- rs1569306260
- ClinGen CA413937905
- ClinVar RCV000709852
- Ensembl rs1569306260
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.17
- MetaLR 0.98
- MetaSVM 1.96
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.28
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)