L38I (p.Leu38Ile) variant of F2 (Prothrombin)
L38I (p.Leu38Ile) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L38I (p.Leu38Ile) variant details
- p.Leu38Ile
- gnomAD 11-46719734-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.59
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available