C28Y (p.Cys28Tyr) variant of F9 (Coagulation factor IX)
C28Y (p.Cys28Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C28Y (p.Cys28Tyr) variant details
- p.Cys28Tyr
- UniProt VAR 017343
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.63
- MetaLR 0.66
- MetaSVM 0.16
- CADD 21.60
- PolyPhen-2 0.13
- SIFT 0.43
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five… (PMID 25251685)