A2A (p.Ala2Ala) variant of SMO (Protein smoothened)
A2A (p.Ala2Ala) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs1793442217
- gnomAD 7-129189157-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.291
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available