L14V (p.Leu14Val) variant of LRP5 (O75197)
L14V (p.Leu14Val) 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.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD 11-68312754-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.22
- CADD 6.26
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available