R294Q (p.Arg294Gln) variant of F9 (Coagulation factor IX)
R294Q (p.Arg294Gln) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R294Q (p.Arg294Gln) variant details
- p.Arg294Gln
- rs137852249
- ClinGen CA255368
- NCI-TCGA Cosmic COSV5437
- cosmic curated COSV54379
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.58
- AlphaMissense 0.50
- MetaLR 0.66
- MetaSVM -0.21
- CADD 23.20
- PolyPhen-2 0.45
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- 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: Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. (PMID 1346975)