R40L (p.Arg40Leu) variant of F2 (Prothrombin)
R40L (p.Arg40Leu) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- gnomAD 11-46719741-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.85
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available