G260R (p.Gly260Arg) variant of GLA (Alpha-galactosidase A)
G260R (p.Gly260Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 published literature and structural context.
G260R (p.Gly260Arg) variant details
- p.Gly260Arg
- rs2147472959
- ClinGen CA413923991
- ClinVar RCV001379079
- Ensembl rs2147472959
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.58
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely 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)