L18M (p.Leu18Met) variant of SMO (Protein smoothened)
L18M (p.Leu18Met) 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 and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- Ensembl rs2150637822
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.20
- MetaLR 0.22
- MetaSVM -0.91
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available