L21V (p.Leu21Val) variant of SMO (Protein smoothened)
L21V (p.Leu21Val) 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 and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- Ensembl rs2150637847
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- MetaLR 0.33
- MetaSVM -0.69
- CADD 22.50
- PolyPhen-2 0.90
- SIFT 0.23
- Population evidence available
- Structural context available