N392D (p.Asn392Asp) variant of F9 (Coagulation factor IX)
N392D (p.Asn392Asp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Warfarin sensitivity, X-linked; Thrombophilia, X-linked, due to factor 9 defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N392D (p.Asn392Asp) variant details
- p.Asn392Asp
- rs1603267412
- ClinGen CA414446319
- ClinVar RCV001000169
- ClinVar RCV003769377
- Pathogenic/Likely pathogenic
- Warfarin sensitivity, X-linked; Thrombophilia, X-linked, due to factor 9 defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.26
- MetaLR 0.37
- MetaSVM -0.63
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.54
- ClinVar: Pathogenic/Likely pathogenic (Warfarin sensitivity, X-linked; Thrombophilia, X-linked, due to)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)