S55* (p.Ser55Ter) variant of BTK (Tyrosine-protein kinase BTK)
S55* (p.Ser55Ter) in BTK (Tyrosine-protein kinase BTK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements, published literature, and structural context.
S55* (p.Ser55Ter) variant details
- p.Ser55Ter
- rs1555980796
- ClinGen CA413939060
- cosmic curated COSV58121
- ClinVar RCV000589435
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.836
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)