p.Leu23dup variant of SMO (Protein smoothened)
p.Leu23dup 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.Leu23dup variant details
- rs570242755
- gnomAD 7-129189198-G-GGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 21.10
- Population evidence available
- Structural context available
- Literature evidence available