A279P (p.Ala279Pro) variant of F9 (Coagulation factor IX)
A279P (p.Ala279Pro) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.66 / 1. The record also includes published literature and structural context.
A279P (p.Ala279Pro) variant details
- p.Ala279Pro
- rs137852247
- ClinGen CA414443714
- ClinVar RCV001973941
- TOPMed rs137852247
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- AlphaMissense 0.26
- MetaLR 0.78
- MetaSVM 0.66
- PolyPhen-2 0.96
- SIFT 0.04
- EVE 0.49
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- 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)