E61G (p.Glu61Gly) variant of F9 (Coagulation factor IX)
E61G (p.Glu61Gly) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.85 / 1. The record also includes published literature and structural context.
E61G (p.Glu61Gly) variant details
- p.Glu61Gly
- rs2148356134
- ClinGen CA414435890
- ClinVar RCV002018373
- Ensembl rs2148356134
- Uncertain significance
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.49
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)