L18L (p.Leu18Leu) variant of SMO (Protein smoothened)
L18L (p.Leu18Leu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs2150637822
- gnomAD 7-129189203-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 12.70
- Population evidence available
- Structural context available
- Literature evidence available