C28R (p.Cys28Arg) variant of F9 (Coagulation factor IX)
C28R (p.Cys28Arg) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C28R (p.Cys28Arg) variant details
- p.Cys28Arg
- rs387906481
- ClinGen CA255450
- ClinVar RCV000011402
- ClinVar RCV001851793
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.25
- MetaLR 0.58
- MetaSVM -0.13
- PolyPhen-2 0.00
- SIFT 0.53
- MutPred 0.89
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (PMID 7937052)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)