L23W (p.Leu23Trp) variant of SMO (Protein smoothened)
L23W (p.Leu23Trp) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L23W (p.Leu23Trp) variant details
- p.Leu23Trp
- gnomAD 7-129189217-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available