E2V (p.Glu2Val) variant of LRP5 (O75197)
E2V (p.Glu2Val) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- gnomAD 11-68312719-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.36
- CADD 19.20
- PolyPhen-2 0.40
- Population evidence available
- Structural context available
- Literature evidence available