N48Y (p.Asn48Tyr) variant of F9 (Coagulation factor IX)
N48Y (p.Asn48Tyr) 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 0.79 / 1. The record also includes published literature and structural context.
N48Y (p.Asn48Tyr) variant details
- p.Asn48Tyr
- rs1927493197
- ClinGen CA414435634
- ClinVar RCV001265098
- TOPMed rs1927493197
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.31
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.84
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)