A34E (p.Ala34Glu) variant of F2 (Prothrombin)
A34E (p.Ala34Glu) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- gnomAD 11-46719723-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available