L166M (p.Leu166Met) variant of GLA (Alpha-galactosidase A)
L166M (p.Leu166Met) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L166M (p.Leu166Met) variant details
- p.Leu166Met
- rs1928320069
- ClinGen CA413929054
- ClinVar RCV001962406
- TOPMed rs1928320069
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.69
- MetaLR 1.00
- MetaSVM 0.98
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.54
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Likely benign (in FABRYD)
- UniProt: Likely benign (in FABRYD)
- Most common in the African/African-American population (allele frequency 3.8e-05)
- 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)