R5S (p.Arg5Ser) variant of SMO (Protein smoothened)
R5S (p.Arg5Ser) 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 0.42 / 1. The record also includes population frequency data and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- Ensembl rs1793442337
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.39
- MetaLR 0.37
- MetaSVM -0.35
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available