S411G (p.Ser411Gly) variant of F9 (Coagulation factor IX)
S411G (p.Ser411Gly) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S411G (p.Ser411Gly) variant details
- p.Ser411Gly
- rs137852277
- ClinGen CA255441
- ClinVar RCV000011396
- ClinVar RCV002512972
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.73
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. (PMID 1346975)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)