N48D (p.Asn48Asp) variant of F9 (Coagulation factor IX)
N48D (p.Asn48Asp) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- rs1927493197
- ClinGen CA414435632
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54380
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- 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 (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- 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)