G24L (p.Gly24Leu) variant of SMO (Protein smoothened)
G24L (p.Gly24Leu) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G24L (p.Gly24Leu) variant details
- p.Gly24Leu
- gnomAD 7-129189220-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available