E49* (p.Glu49Ter) variant of F2 (Prothrombin)
E49* (p.Glu49Ter) in F2 (Prothrombin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- gnomAD 11-46719767-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available