A30D (p.Ala30Asp) variant of F2 (Prothrombin)
A30D (p.Ala30Asp) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 11-46719711-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.25
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.87
- Population evidence available
- Structural context available
- Literature evidence available