S115F (p.Ser115Phe) variant of BTK (Tyrosine-protein kinase BTK)
S115F (p.Ser115Phe) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The record also includes published literature and structural context.
S115F (p.Ser115Phe) variant details
- p.Ser115Phe
- rs2520657546
- ClinGen CA413937160
- ClinVar RCV003513695
- UniProt VAR 008298
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- Cited in: Neutropenia in X-linked agammaglobulinemia. (PMID 8938104)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)