G442E (p.Gly442Glu) variant of F9 (Coagulation factor IX)
G442E (p.Gly442Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G442E (p.Gly442Glu) variant details
- p.Gly442Glu
- rs1603267474
- ClinGen CA414447349
- cosmic curated COSV54380
- ClinVar RCV001001427
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. (PMID 12604421)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)