E51K (p.Glu51Lys) variant of TSC1 (Hamartin)
E51K (p.Glu51Lys) in TSC1 (Hamartin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in TSC1. The record also includes structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- cosmic curated COSV10646
- Uncertain significance
- in TSC1
- Missense
- EBI: uncertain significance (in TSC1)
- UniProt: Uncertain significance (in TSC1)
- Structural context available