A57G (p.Ala57Gly) variant of TSC1 (Hamartin)
A57G (p.Ala57Gly) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A57G (p.Ala57Gly) variant details
- p.Ala57Gly
- Ensembl rs1846920951
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available