D93N (p.Asp93Asn) variant of F9 (Coagulation factor IX)
D93N (p.Asp93Asn) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D93N (p.Asp93Asn) variant details
- p.Asp93Asn
- rs1286009187
- ClinGen CA414436678
- ClinVar RCV001810628
- ClinVar RCV005647382
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.52
- MetaLR 0.97
- MetaSVM 0.95
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)