L16R (p.Leu16Arg) variant of LRP5 (O75197)
L16R (p.Leu16Arg) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- gnomAD 11-68312760-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 16.40
- Population evidence available
- Structural context available
- Literature evidence available