C268W (p.Cys268Trp) variant of F9 (Coagulation factor IX)
C268W (p.Cys268Trp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C268W (p.Cys268Trp) variant details
- p.Cys268Trp
- rs137852246
- ClinGen CA255363
- ClinVar RCV000011345
- UniProt VAR 017313
- Uncertain significance
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the… (PMID 2773937)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)