L20M (p.Leu20Met) variant of LRP5 (O75197)
L20M (p.Leu20Met) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- gnomAD 11-68312772-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.32
- CADD 18.70
- PolyPhen-2 0.67
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available