L18R (p.Leu18Arg) variant of LRP5 (O75197)
L18R (p.Leu18Arg) in LRP5 (O75197) is a protein-truncating 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.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD 11-68312766-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available