E76G (p.Glu76Gly) variant of F5 (Coagulation factor V)
E76G (p.Glu76Gly) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E76G (p.Glu76Gly) variant details
- p.Glu76Gly
- Ensembl rs2101847023
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.75
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available