E73V (p.Glu73Val) variant of F9 (Coagulation factor IX)
E73V (p.Glu73Val) 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 0.96 / 1. The record also includes published literature and structural context.
E73V (p.Glu73Val) variant details
- p.Glu73Val
- rs137852226
- ClinGen CA255316
- ClinVar RCV000011317
- UniProt VAR 006542
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B. (PMID 2339358)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)