L22C (p.Leu22Cys) variant of SMO (Protein smoothened)
L22C (p.Leu22Cys) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L22C (p.Leu22Cys) variant details
- p.Leu22Cys
- gnomAD 7-129189214-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available