Y196* (p.Tyr196Ter) variant of CASK (O14936)
Y196* (p.Tyr196Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y196* (p.Tyr196Ter) variant details
- p.Tyr196Ter
- rs1008303488
- ClinGen CA412998290
- ClinVar RCV001725808
- TOPMed rs1008303488
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available