F25S (p.Phe25Ser) variant of BTK (Tyrosine-protein kinase BTK)
F25S (p.Phe25Ser) 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 experimental measurements, published literature, and structural context.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- UniProt VAR 006219
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.101
- Cited in: DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. (PMID 7711734)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)