R379Q (p.Arg379Gln) variant of F9 (Coagulation factor IX)
R379Q (p.Arg379Gln) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R379Q (p.Arg379Gln) variant details
- p.Arg379Gln
- rs137852259
- ClinGen CA255394
- cosmic curated COSV54378
- ClinVar RCV000011359
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.63
- MetaLR 0.59
- MetaSVM 0.19
- CADD 22.40
- PolyPhen-2 0.37
- SIFT 0.08
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism. (PMID 3181127)
- Cited in: Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and… (PMID 8076946)