C18R (p.Cys18Arg) variant of F9 (Coagulation factor IX)
C18R (p.Cys18Arg) 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 0.69 / 1. The record also includes published literature and structural context.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- rs387906474
- ClinGen CA255310
- ClinVar RCV000011314
- Ensembl rs387906474
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.65
- MetaLR 0.69
- MetaSVM 0.37
- PolyPhen-2 0.59
- SIFT 0.05
- MutPred 0.80
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)