L23G (p.Leu23Gly) variant of SMO (Protein smoothened)
L23G (p.Leu23Gly) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L23G (p.Leu23Gly) variant details
- p.Leu23Gly
- gnomAD 7-129189216-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available