L19L (p.Leu19Leu) variant of SMO (Protein smoothened)
L19L (p.Leu19Leu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs551830801
- gnomAD 7-129189206-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available