A3A (p.Ala3Ala) variant of SMO (Protein smoothened)
A3A (p.Ala3Ala) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- gnomAD 7-129189160-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 13.50
- Population evidence available
- Structural context available
- Literature evidence available