P6R (p.Pro6Arg) variant of GLA (Alpha-galactosidase A)
P6R (p.Pro6Arg) 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 Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs1928600137
- ClinGen CA413937876
- ClinVar RCV001372488
- ClinVar RCV002413896
- Uncertain significance
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.04
- MetaLR 0.98
- MetaSVM 2.47
- PolyPhen-2 0.00
- SIFT 0.78
- MutPred 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype; 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)