Y118* (p.Tyr118Ter) variant of KCNQ2 (O43526)
Y118* (p.Tyr118Ter) in KCNQ2 (O43526) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y118* (p.Tyr118Ter) variant details
- p.Tyr118Ter
- rs2145789339
- ClinGen CA409656404
- ClinVar RCV006468632
- Ensembl rs2145789339
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available