E11Q (p.Glu11Gln) variant of SMO (Protein smoothened)
E11Q (p.Glu11Gln) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- gnomAD 7-129189182-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.30
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available