L19M (p.Leu19Met) variant of TSC2 (Tuberin)
L19M (p.Leu19Met) 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.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- Ensembl rs2150971171
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available