R28L (p.Arg28Leu) variant of SMO (Protein smoothened)
R28L (p.Arg28Leu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- Ensembl rs2150637910
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.18
- MetaLR 0.20
- MetaSVM -0.82
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available