Y112* (p.Tyr112Ter) variant of BTK (Tyrosine-protein kinase BTK)
Y112* (p.Tyr112Ter) in BTK (Tyrosine-protein kinase BTK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y112* (p.Tyr112Ter) variant details
- p.Tyr112Ter
- rs1409835623
- ClinGen CA413937218
- ClinVar RCV001870380
- TOPMed rs1409835623
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available