Q91* (p.Gln91Ter) variant of BTK (Tyrosine-protein kinase BTK)
Q91* (p.Gln91Ter) 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 published literature and structural context.
Q91* (p.Gln91Ter) variant details
- p.Gln91Ter
- rs2520668410
- ClinGen CA413938121
- ClinVar RCV003140473
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)