G9R (p.Gly9Arg) variant of SMO (Protein smoothened)
G9R (p.Gly9Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- TOPMed rs1563144493
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.30
- MetaLR 0.24
- MetaSVM -0.80
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available