L12C (p.Leu12Cys) variant of LRP5 (O75197)
L12C (p.Leu12Cys) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L12C (p.Leu12Cys) variant details
- p.Leu12Cys
- gnomAD 11-68312746-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available