Y100* (p.Tyr100Ter) variant of BTK (Tyrosine-protein kinase BTK)
Y100* (p.Tyr100Ter) 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.
Y100* (p.Tyr100Ter) variant details
- p.Tyr100Ter
- rs1927036604
- ClinGen CA413938046
- ClinVar RCV001250190
- Ensembl rs1927036604
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)