C252Y (p.Cys252Tyr) variant of F9 (Coagulation factor IX)
C252Y (p.Cys252Tyr) 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 0.95 / 1. The record also includes published literature and structural context.
C252Y (p.Cys252Tyr) variant details
- p.Cys252Tyr
- rs267606792
- ClinGen CA414443205
- ClinVar RCV003066387
- ClinVar RCV005930336
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- 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: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Hemophilia B. (PMID 20301668)