L68F (p.Leu68Phe) variant of GLA (Alpha-galactosidase A)
L68F (p.Leu68Phe) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- rs1928411447
- ClinGen CA413934691
- ClinVar RCV001060432
- ClinVar RCV002418513
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.52
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Fabry disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)