R8A (p.Arg8Ala) variant of SMO (Protein smoothened)
R8A (p.Arg8Ala) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R8A (p.Arg8Ala) variant details
- p.Arg8Ala
- gnomAD 7-129189171-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available