A57P (p.Ala57Pro) variant of TSC1 (Hamartin)
A57P (p.Ala57Pro) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- Ensembl rs1846921261
- Missense
- Structural context available