L14R (p.Leu14Arg) variant of LRP5 (O75197)
L14R (p.Leu14Arg) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD 11-68312754-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 17.00
- Population evidence available
- Structural context available
- Literature evidence available