F55I (p.Phe55Ile) variant of F9 (Coagulation factor IX)
F55I (p.Phe55Ile) 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 Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F55I (p.Phe55Ile) variant details
- p.Phe55Ile
- rs759987427
- ClinGen CA10529741
- ClinVar RCV001380937
- ClinVar RCV005040248
- Pathogenic/Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.65
- AlphaMissense 0.13
- MetaLR 0.86
- MetaSVM 0.51
- CADD 17.60
- PolyPhen-2 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)