G122R (p.Gly122Arg) variant of F9 (Coagulation factor IX)
G122R (p.Gly122Arg) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G122R (p.Gly122Arg) variant details
- p.Gly122Arg
- rs770120402
- ClinGen CA414437810
- ClinVar RCV001327375
- ExAC rs770120402
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)