Y220* (p.Tyr220Ter) variant of CASK (O14936)
Y220* (p.Tyr220Ter) in CASK (O14936) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y220* (p.Tyr220Ter) variant details
- p.Tyr220Ter
- rs747587301
- ClinGen CA412997815
- ClinVar RCV000497506
- ExAC rs747587301
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available