L14P (p.Leu14Pro) variant of LRP5 (O75197)
L14P (p.Leu14Pro) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- gnomAD 11-68312754-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available