F395I (p.Phe395Ile) variant of F9 (Coagulation factor IX)
F395I (p.Phe395Ile) 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; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
F395I (p.Phe395Ile) variant details
- p.Phe395Ile
- rs1175050951
- ClinGen CA414446355
- ClinVar RCV001905309
- UniProt VAR 017359
- Pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.66
- MetaLR 0.61
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)