F424L (p.Phe424Leu) variant of F9 (Coagulation factor IX)
F424L (p.Phe424Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The record also includes published literature and structural context.
F424L (p.Phe424Leu) variant details
- p.Phe424Leu
- rs2520848016
- ClinGen CA414446985
- ClinVar RCV002852374
- Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Likely pathogenic (in HEMB)
- UniProt: Likely pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)