L20M (p.Leu20Met) variant of SMO (Protein smoothened)
L20M (p.Leu20Met) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- gnomAD 7-129189209-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.27
- CADD 19.00
- PolyPhen-2 0.97
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available