R8R (p.Arg8Arg) variant of SMO (Protein smoothened)
R8R (p.Arg8Arg) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- gnomAD 7-129189173-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available