L13V (p.Leu13Val) variant of LRP5 (O75197)
L13V (p.Leu13Val) in LRP5 (O75197) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- gnomAD 11-68312751-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.23
- CADD 4.54
- PolyPhen-2 0.00
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available