R294L (p.Arg294Leu) variant of F9 (Coagulation factor IX)
R294L (p.Arg294Leu) 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 0.50 / 1. The record also includes published literature and structural context.
R294L (p.Arg294Leu) variant details
- p.Arg294Leu
- rs137852249
- ClinGen CA414444639
- ClinVar RCV003066389
- TOPMed rs137852249
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.50
- MetaLR 0.66
- MetaSVM -0.21
- PolyPhen-2 0.45
- SIFT 0.18
- EVE 0.17
- 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: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)