Q55L (p.Gln55Leu) variant of TSC1 (Hamartin)
Q55L (p.Gln55Leu) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
Q55L (p.Gln55Leu) variant details
- p.Gln55Leu
- Ensembl rs2132267915
- Missense
- Structural context available