K16* (p.Lys16Ter) variant of TSC2 (Tuberin)
K16* (p.Lys16Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K16* (p.Lys16Ter) variant details
- p.Lys16Ter
- Ensembl rs2150970962
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available