E2K (p.Glu2Lys) variant of LRP5 (O75197)
E2K (p.Glu2Lys) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 11-68312718-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- CADD 19.40
- PolyPhen-2 0.29
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available