A4A (p.Ala4Ala) variant of SMO (Protein smoothened)
A4A (p.Ala4Ala) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs1793442299
- gnomAD 7-129189163-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 14.80
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available