G50S (p.Gly50Ser) variant of F9 (Coagulation factor IX)
G50S (p.Gly50Ser) 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; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- rs1556435940
- ClinGen CA414435668
- ClinVar RCV000551608
- Ensembl rs1556435940
- Pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.82
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.10
- PolyPhen-2 0.88
- SIFT 0.06
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)