L11M (p.Leu11Met) variant of TSC2 (Tuberin)
L11M (p.Leu11Met) in TSC2 (Tuberin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- TOPMed rs978517404
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available