p.Leu22 Leu23del variant of SMO (Protein smoothened)
p.Leu22 Leu23del 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.Leu22 Leu23del variant details
- rs570242755
- gnomAD 7-129189198-GGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 21.10
- Most common in the Latino/Admixed American population (allele frequency 0.0011)
- Structural context available
- Literature evidence available