E73K (p.Glu73Lys) variant of F9 (Coagulation factor IX)
E73K (p.Glu73Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- rs137852225
- UniProt VAR 006541
- TOPMed rs137852225
- Pathogenic
- in HEMB
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.81
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization… (PMID 2472424)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)