G27R (p.Gly27Arg) variant of SMO (Protein smoothened)
G27R (p.Gly27Arg) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G27R (p.Gly27Arg) variant details
- p.Gly27Arg
- TOPMed rs945565546
- gnomAD rs945565546
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- MetaLR 0.30
- MetaSVM -0.77
- CADD 22.90
- PolyPhen-2 0.71
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available