E76K (p.Glu76Lys) variant of F9 (Coagulation factor IX)
E76K (p.Glu76Lys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- rs1603264236
- ClinGen CA414436158
- ClinVar RCV001001434
- Ensembl rs1603264236
- Pathogenic
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available