E2D (p.Glu2Asp) variant of LRP5 (O75197)
E2D (p.Glu2Asp) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 11-68312720-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.24
- CADD 14.10
- PolyPhen-2 0.22
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available