L21P (p.Leu21Pro) variant of SMO (Protein smoothened)
L21P (p.Leu21Pro) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- gnomAD 7-129189212-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 28.60
- Population evidence available
- Structural context available
- Literature evidence available