L20C (p.Leu20Cys) variant of SMO (Protein smoothened)
L20C (p.Leu20Cys) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L20C (p.Leu20Cys) variant details
- p.Leu20Cys
- gnomAD 7-129189207-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.481
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available