V64F (p.Val64Phe) variant of BTK (Tyrosine-protein kinase BTK)
V64F (p.Val64Phe) 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.
V64F (p.Val64Phe) variant details
- p.Val64Phe
- UniProt VAR 006223
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- Cited in: Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. (PMID 7849006)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)