E11E (p.Glu11Glu) variant of SMO (Protein smoothened)
E11E (p.Glu11Glu) in SMO (Protein smoothened) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- rs1390945946
- gnomAD 7-129189184-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 12.00
- Population evidence available
- Structural context available
- Literature evidence available