G94R (p.Gly94Arg) variant of F9 (Coagulation factor IX)
G94R (p.Gly94Arg) 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 Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G94R (p.Gly94Arg) variant details
- p.Gly94Arg
- rs1556437035
- ClinGen CA414437361
- ClinVar RCV001378470
- TOPMed rs1556437035
- Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)