A7A (p.Ala7Ala) variant of SMO (Protein smoothened)
A7A (p.Ala7Ala) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs1793442534
- gnomAD 7-129189172-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available