L7S (p.Leu7Ser) variant of F2 (Prothrombin)
L7S (p.Leu7Ser) in F2 (Prothrombin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- gnomAD 11-46719255-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.56
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available