L13R (p.Leu13Arg) variant of LRP5 (O75197)
L13R (p.Leu13Arg) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 11-68312749-T-TGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.60
- Population evidence available
- Structural context available
- Literature evidence available