L18C (p.Leu18Cys) variant of LRP5 (O75197)
L18C (p.Leu18Cys) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L18C (p.Leu18Cys) variant details
- p.Leu18Cys
- gnomAD 11-68312764-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available