L23del (p.Leu23del) variant of SMO (Protein smoothened)
L23del (p.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.
L23del (p.Leu23del) variant details
- rs570242755
- gnomAD 7-129189198-GGCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available