S93* (p.Ser93Ter) variant of BTK (Tyrosine-protein kinase BTK)
S93* (p.Ser93Ter) 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 structural context.
S93* (p.Ser93Ter) variant details
- p.Ser93Ter
- rs1569295678
- ClinGen CA413938098
- cosmic curated COSV58123
- ClinVar RCV000703916
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available