G442R (p.Gly442Arg) variant of F9 (Coagulation factor IX)
G442R (p.Gly442Arg) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G442R (p.Gly442Arg) variant details
- p.Gly442Arg
- rs137852267
- ClinGen CA255418
- NCI-TCGA Cosmic COSV5438
- cosmic curated COSV54381
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.94
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing… (PMID 2714791)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)