S354R (p.Ser354Arg) variant of F9 (Coagulation factor IX)
S354R (p.Ser354Arg) 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 0.89 / 1. The record also includes published literature and structural context.
S354R (p.Ser354Arg) variant details
- p.Ser354Arg
- rs2148367882
- ClinGen CA414445642
- ClinVar RCV001930794
- Ensembl rs2148367882
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)