R28R (p.Arg28Arg) variant of SMO (Protein smoothened)
R28R (p.Arg28Arg) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R28R (p.Arg28Arg) variant details
- p.Arg28Arg
- gnomAD 7-129189233-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 14.50
- Population evidence available
- Structural context available
- Literature evidence available