G27S (p.Gly27Ser) variant of SMO (Protein smoothened)
G27S (p.Gly27Ser) 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.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- TOPMed rs945565546
- gnomAD rs945565546
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.27
- MetaLR 0.21
- MetaSVM -0.98
- CADD 16.30
- PolyPhen-2 0.21
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available