F71L (p.Phe71Leu) variant of F9 (Coagulation factor IX)
F71L (p.Phe71Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The record also includes structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- TOPMed rs1385472584
- Uncertain significance
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- UniProt: Uncertain significance (in HEMB)
- Structural context available