F18L (p.Phe18Leu) variant of GLA (Alpha-galactosidase A)
F18L (p.Phe18Leu) 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 GLA-related disorder. The record also includes structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- rs2520946586
- ClinGen CA413937720
- ClinVar RCV003391530
- Uncertain significance
- GLA-related disorder
- Missense
- ClinVar: Uncertain significance (GLA-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available