G106S (p.Gly106Ser) variant of F9 (Coagulation factor IX)
G106S (p.Gly106Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G106S (p.Gly106Ser) variant details
- p.Gly106Ser
- rs137852233
- ClinGen CA255329
- NCI-TCGA Cosmic COSV5438
- NCI-TCGA Cosmic COSV9949
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.91
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available
- Cited in: Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization… (PMID 2472424)
- Cited in: A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel). (PMID 2762170)