C119Y (p.Cys119Tyr) variant of F9 (Coagulation factor IX)
C119Y (p.Cys119Tyr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C119Y (p.Cys119Tyr) variant details
- p.Cys119Tyr
- rs1349887620
- ClinGen CA414437736
- ClinVar RCV003050657
- TOPMed rs1349887620
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 1.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)