p.Leu21 Leu22insVal variant of SMO (Protein smoothened)
p.Leu21 Leu22insVal in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu21 Leu22insVal variant details
- gnomAD 7-129189212-C-CTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.294
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available