L20V (p.Leu20Val) variant of LRP5 (O75197)
L20V (p.Leu20Val) 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.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- gnomAD 11-68312772-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.22
- CADD 12.90
- PolyPhen-2 0.36
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available