p.Leu17 Leu18insMet variant of SMO (Protein smoothened)
p.Leu17 Leu18insMet in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu17 Leu18insMet variant details
- rs1793443371
- gnomAD 7-129189200-C-CTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available