E79V (p.Glu79Val) variant of F9 (Coagulation factor IX)
E79V (p.Glu79Val) 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 Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
E79V (p.Glu79Val) variant details
- p.Glu79Val
- rs1468904853
- ClinGen CA414436226
- ClinVar RCV003783785
- TOPMed rs1468904853
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.72
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- 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)