L14F (p.Leu14Phe) variant of GLA (Alpha-galactosidase A)
L14F (p.Leu14Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs2147487699
- ClinGen CA413937779
- ClinVar RCV001878314
- Ensembl rs2147487699
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.06
- MetaLR 0.98
- MetaSVM 1.92
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.41
- ClinVar: Uncertain significance (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)