L21M (p.Leu21Met) variant of SMO (Protein smoothened)
L21M (p.Leu21Met) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 7-129189212-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.25
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available