Y42* (p.Tyr42Ter) variant of BTK (Tyrosine-protein kinase BTK)
Y42* (p.Tyr42Ter) 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 experimental measurements, published literature, and structural context.
Y42* (p.Tyr42Ter) variant details
- p.Tyr42Ter
- rs2147448164
- ClinGen CA413939289
- ClinVar RCV002243536
- Ensembl rs2147448164
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.889
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)