F55L (p.Phe55Leu) variant of F9 (Coagulation factor IX)
F55L (p.Phe55Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
F55L (p.Phe55Leu) variant details
- p.Phe55Leu
- rs759987427
- ClinGen CA414435768
- ClinVar RCV002011308
- ClinVar RCV006280903
- Uncertain significance
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.13
- MetaLR 0.86
- MetaSVM 0.51
- PolyPhen-2 0.02
- SIFT 0.13
- MutPred 0.83
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)