L38V (p.Leu38Val) variant of F2 (Prothrombin)
L38V (p.Leu38Val) in F2 (Prothrombin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- rs755345665
- gnomAD 11-46719314-G-GTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available