C64Y (p.Cys64Tyr) variant of F9 (Coagulation factor IX)
C64Y (p.Cys64Tyr) 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; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C64Y (p.Cys64Tyr) variant details
- p.Cys64Tyr
- rs1330779541
- ClinGen CA414435945
- ClinVar RCV001390294
- TOPMed rs1330779541
- Pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)