G27V (p.Gly27Val) variant of SMO (Protein smoothened)
G27V (p.Gly27Val) 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.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- Ensembl rs2150637898
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.65
- CADD 23.50
- PolyPhen-2 0.71
- SIFT 0.01
- Population evidence available
- Structural context available