R28G (p.Arg28Gly) variant of SMO (Protein smoothened)
R28G (p.Arg28Gly) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- gnomAD 7-129189233-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.21
- CADD 20.10
- PolyPhen-2 0.03
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available