A30S (p.Ala30Ser) variant of F2 (Prothrombin)
A30S (p.Ala30Ser) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 11-46719710-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.33
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available