E76E (p.Glu76Glu) variant of F9 (Coagulation factor IX)
E76E (p.Glu76Glu) in F9 (Coagulation factor IX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E76E (p.Glu76Glu) variant details
- p.Glu76Glu
- gnomAD X-139537149-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 8.72
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available