C64F (p.Cys64Phe) variant of F9 (Coagulation factor IX)
C64F (p.Cys64Phe) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C64F (p.Cys64Phe) variant details
- p.Cys64Phe
- TOPMed rs1330779541
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available