L20L (p.Leu20Leu) variant of SMO (Protein smoothened)
L20L (p.Leu20Leu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L20L (p.Leu20Leu) variant details
- p.Leu20Leu
- rs2150637840
- gnomAD 7-129189209-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available