p.Leu21 Leu23del variant of SMO (Protein smoothened)
p.Leu21 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.Leu21 Leu23del variant details
- rs570242755
- gnomAD 7-129189198-GGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available