Q55E (p.Gln55Glu) variant of TSC1 (Hamartin)
Q55E (p.Gln55Glu) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q55E (p.Gln55Glu) variant details
- p.Gln55Glu
- Ensembl rs118203343
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available