R5R (p.Arg5Arg) variant of SMO (Protein smoothened)
R5R (p.Arg5Arg) in SMO (Protein smoothened) is a synonymous 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.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- gnomAD 7-129189166-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 2.3e-06)
- Structural context available
- Literature evidence available