F159L (p.Phe159Leu) variant of GLA (Alpha-galactosidase A)
F159L (p.Phe159Leu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
F159L (p.Phe159Leu) variant details
- p.Phe159Leu
- rs1928321516
- ClinGen CA413929368
- ClinVar RCV001185366
- ClinVar RCV002327443
- Uncertain significance
- Fabry disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.70
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Fabry disease; Cardiovascular phenotype)
- 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)