C23W (p.Cys23Trp) variant of LRP5 (O75197)
C23W (p.Cys23Trp) in LRP5 (O75197) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C23W (p.Cys23Trp) variant details
- p.Cys23Trp
- gnomAD 11-68312782-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available