R43Q (p.Arg43Gln) variant of F2 (Prothrombin)
R43Q (p.Arg43Gln) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- TOPMed rs1565700695
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available