K12E (p.Lys12Glu) variant of TSC2 (Tuberin)
K12E (p.Lys12Glu) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- Ensembl rs45512692
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available