L23M (p.Leu23Met) variant of SMO (Protein smoothened)
L23M (p.Leu23Met) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L23M (p.Leu23Met) variant details
- p.Leu23Met
- gnomAD 7-129189218-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.17
- CADD 19.70
- PolyPhen-2 0.07
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available