A44S (p.Ala44Ser) variant of F2 (Prothrombin)
A44S (p.Ala44Ser) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A44S (p.Ala44Ser) variant details
- p.Ala44Ser
- gnomAD 11-46719752-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.70
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available