C23L (p.Cys23Leu) variant of LRP5 (O75197)
C23L (p.Cys23Leu) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C23L (p.Cys23Leu) variant details
- p.Cys23Leu
- gnomAD 11-68312780-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available