L45M (p.Leu45Met) variant of TSC1 (Hamartin)
L45M (p.Leu45Met) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
L45M (p.Leu45Met) variant details
- p.Leu45Met
- ExAC rs755226092
- TOPMed rs755226092
- gnomAD rs755226092
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available