V46L (p.Val46Leu) variant of TSC1 (Hamartin)
V46L (p.Val46Leu) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- Ensembl rs2132269410
- Missense
- Structural context available