Y76* (p.Tyr76Ter) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Y76* (p.Tyr76Ter) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y76* (p.Tyr76Ter) variant details
- p.Tyr76Ter
- rs140451238
- ClinGen CA361948081
- ClinVar RCV002816276
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available