L17L (p.Leu17Leu) variant of SMO (Protein smoothened)
L17L (p.Leu17Leu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- rs1793443285
- gnomAD 7-129189200-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.298
- CADD 13.30
- Population evidence available
- Structural context available
- Literature evidence available