L21G (p.Leu21Gly) variant of SMO (Protein smoothened)
L21G (p.Leu21Gly) in SMO (Protein smoothened) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L21G (p.Leu21Gly) variant details
- p.Leu21Gly
- gnomAD 7-129189211-GCTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available