E66K (p.Glu66Lys) variant of F9 (Coagulation factor IX)
E66K (p.Glu66Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- rs1569481975
- ClinGen CA414435972
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99496
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.95
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Likely pathogenic (in HEMB)
- UniProt: Likely pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)