G16R (p.Gly16Arg) variant of SMO (Protein smoothened)
G16R (p.Gly16Arg) in SMO (Protein smoothened) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- gnomAD rs1793443037
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.94
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available