L17M (p.Leu17Met) variant of SMO (Protein smoothened)
L17M (p.Leu17Met) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- gnomAD 7-129189200-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.18
- CADD 18.00
- PolyPhen-2 0.07
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available