L45W (p.Leu45Trp) variant of TSC1 (Hamartin)

L45W (p.Leu45Trp) in TSC1 (Hamartin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

L45W (p.Leu45Trp) variant details