R5L (p.Arg5Leu) variant of SMO (Protein smoothened)
R5L (p.Arg5Leu) in SMO (Protein smoothened) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- TOPMed rs1406355067
- gnomAD rs1406355067
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.45
- MetaLR 0.37
- MetaSVM -0.14
- CADD 25.70
- PolyPhen-2 0.73
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available