G16W (p.Gly16Trp) variant of SMO (Protein smoothened)
G16W (p.Gly16Trp) 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.
G16W (p.Gly16Trp) variant details
- p.Gly16Trp
- gnomAD rs1793443037
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.35
- MetaLR 0.19
- MetaSVM -0.84
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available