E49Q (p.Glu49Gln) variant of F2 (Prothrombin)
E49Q (p.Glu49Gln) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- ExAC rs754914460
- gnomAD rs754914460
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available