K120* (p.Lys120Ter) variant of KCNQ2 (O43526)
K120* (p.Lys120Ter) in KCNQ2 (O43526) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K120* (p.Lys120Ter) variant details
- p.Lys120Ter
- rs2516533290
- ClinGen CA409656383
- ClinVar RCV004534623
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available