L7F (p.Leu7Phe) variant of F2 (Prothrombin)
L7F (p.Leu7Phe) in F2 (Prothrombin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- gnomAD 11-46719253-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available