E96* (p.Glu96Ter) variant of BTK (Tyrosine-protein kinase BTK)
E96* (p.Glu96Ter) 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.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- rs2520668139
- ClinGen CA413938079
- ClinVar RCV003625831
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available