E2Q (p.Glu2Gln) variant of LRP5 (O75197)
E2Q (p.Glu2Gln) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- TOPMed rs2098589173
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- CADD 18.60
- PolyPhen-2 0.40
- Population evidence available
- Structural context available