L22M (p.Leu22Met) variant of SMO (Protein smoothened)
L22M (p.Leu22Met) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD rs1254310202
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.24
- MetaLR 0.48
- MetaSVM -0.54
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available