L14L (p.Leu14Leu) variant of SMO (Protein smoothened)
L14L (p.Leu14Leu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 7-129189193-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available