G357R (p.Gly357Arg) variant of F9 (Coagulation factor IX)
G357R (p.Gly357Arg) 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; Hereditary factor VIII deficiency disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G357R (p.Gly357Arg) variant details
- p.Gly357Arg
- rs137852257
- ClinGen CA255389
- ClinVar RCV000011357
- ClinVar RCV000851648
- Pathogenic/Likely pathogenic
- Hereditary factor IX deficiency disease; Hereditary factor VIII deficiency disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor IX deficiency disease; Hereditary factor VIII)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the… (PMID 2773937)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)