G27C (p.Gly27Cys) variant of SMO (Protein smoothened)
G27C (p.Gly27Cys) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G27C (p.Gly27Cys) variant details
- p.Gly27Cys
- TOPMed rs945565546
- gnomAD rs945565546
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.26
- MetaLR 0.37
- MetaSVM -0.68
- CADD 23.20
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available