L16C (p.Leu16Cys) variant of LRP5 (O75197)
L16C (p.Leu16Cys) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L16C (p.Leu16Cys) variant details
- p.Leu16Cys
- gnomAD 11-68312758-TGCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available