V46E (p.Val46Glu) variant of TSC1 (Hamartin)
V46E (p.Val46Glu) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
V46E (p.Val46Glu) variant details
- p.Val46Glu
- Ensembl rs2132269343
- Missense
- Structural context available