Q57* (p.Gln57Ter) variant of F9 (Coagulation factor IX)
Q57* (p.Gln57Ter) in F9 (Coagulation factor IX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs137852223
- ClinGen CA255307
- ClinVar RCV000011313
- TOPMed rs137852223
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.591
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.43
- PolyPhen-2 0.03
- SIFT 0.13
- MutPred 0.81
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Diagnosis of haemophilia B carriers using intragenic oligonucleotide probes. (PMID 2873459)
- Cited in: Hemophilia B. (PMID 20301668)