L15M (p.Leu15Met) variant of SMO (Protein smoothened)
L15M (p.Leu15Met) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- gnomAD 7-129189194-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.20
- CADD 16.40
- PolyPhen-2 0.08
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available