S54T (p.Ser54Thr) variant of TSC1 (Hamartin)
S54T (p.Ser54Thr) in TSC1 (Hamartin) is a missense change. The record also includes structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- Ensembl rs2132268134
- Missense
- Structural context available