L20R (p.Leu20Arg) variant of LRP5 (O75197)
L20R (p.Leu20Arg) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- gnomAD 11-68312772-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 22.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available