L20G (p.Leu20Gly) variant of LRP5 (O75197)
L20G (p.Leu20Gly) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L20G (p.Leu20Gly) variant details
- p.Leu20Gly
- gnomAD 11-68312771-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available