L20R (p.Leu20Arg) variant of SMO (Protein smoothened)
L20R (p.Leu20Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- Ensembl rs2150637842
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.41
- MetaLR 0.49
- MetaSVM -0.42
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available