L22L (p.Leu22Leu) variant of SMO (Protein smoothened)
L22L (p.Leu22Leu) 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.
L22L (p.Leu22Leu) variant details
- p.Leu22Leu
- rs1254310202
- gnomAD 7-129189215-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available