L19V (p.Leu19Val) variant of LRP5 (O75197)
L19V (p.Leu19Val) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 11-68312769-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.25
- CADD 3.90
- PolyPhen-2 0.36
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available