R226Q (p.Arg226Gln) variant of F9 (Coagulation factor IX)
R226Q (p.Arg226Gln) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
R226Q (p.Arg226Gln) variant details
- p.Arg226Gln
- rs137852241
- ClinGen CA121128
- ClinVar RCV000011337
- ClinVar RCV001727513
- Pathogenic
- not provided; Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.27
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (not provided; Hereditary factor IX deficiency disease)
- 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: Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX. (PMID 2162822)