C268F (p.Cys268Phe) variant of F9 (Coagulation factor IX)
C268F (p.Cys268Phe) 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 Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
C268F (p.Cys268Phe) variant details
- p.Cys268Phe
- rs1603267195
- ClinGen CA414443543
- ClinVar RCV001000189
- ClinVar RCV006450839
- Uncertain significance
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease)
- 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)