L17M (p.Leu17Met) variant of LRP5 (O75197)
L17M (p.Leu17Met) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 11-68312763-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.39
- CADD 12.80
- PolyPhen-2 0.67
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available