G27D (p.Gly27Asp) variant of SMO (Protein smoothened)
G27D (p.Gly27Asp) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- Ensembl rs2150637898
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.92
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available