S21* (p.Ser21Ter) variant of BTK (Tyrosine-protein kinase BTK)
S21* (p.Ser21Ter) 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 and structural context.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- rs2147448284
- ClinGen CA413939630
- cosmic curated COSV58117
- ClinVar RCV001381525
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -1.09