L18M (p.Leu18Met) variant of LRP5 (O75197)
L18M (p.Leu18Met) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 11-68312766-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.35
- CADD 17.50
- PolyPhen-2 0.67
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available