C407S (p.Cys407Ser) variant of F9 (Coagulation factor IX)
C407S (p.Cys407Ser) 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 Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C407S (p.Cys407Ser) variant details
- p.Cys407Ser
- rs1465724732
- ClinGen CA414446567
- ClinVar RCV003783794
- UniProt VAR 006604
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Twenty-five novel mutations of the factor IX gene in haemophilia B. (PMID 8680410)
- Cited in: Hemophilia B. (PMID 20301668)