L58* (p.Leu58Ter) variant of TSC1 (Hamartin)
L58* (p.Leu58Ter) in TSC1 (Hamartin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L58* (p.Leu58Ter) variant details
- p.Leu58Ter
- TOPMed rs1846919963
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available