R379G (p.Arg379Gly) variant of F9 (Coagulation factor IX)
R379G (p.Arg379Gly) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.73 / 1. The record also includes published literature and structural context.
R379G (p.Arg379Gly) variant details
- p.Arg379Gly
- rs137852258
- UniProt VAR 006596
- TOPMed rs137852258
- gnomAD rs137852258
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.56
- MetaLR 0.77
- MetaSVM 0.62
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)