L17V (p.Leu17Val) variant of LRP5 (O75197)
L17V (p.Leu17Val) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 11-68312763-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.32
- CADD 3.53
- PolyPhen-2 0.36
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available