R8Q (p.Arg8Gln) variant of SMO (Protein smoothened)
R8Q (p.Arg8Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- TOPMed rs981209235
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.83
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available