C178R (p.Cys178Arg) variant of F9 (Coagulation factor IX)
C178R (p.Cys178Arg) 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 0.86 / 1. The record also includes published literature and structural context.
C178R (p.Cys178Arg) variant details
- p.Cys178Arg
- rs2148362390
- ClinGen CA414440298
- ClinVar RCV001982943
- UniProt VAR 006566
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- 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: 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)