E11V (p.Glu11Val) variant of SMO (Protein smoothened)
E11V (p.Glu11Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E11V (p.Glu11Val) variant details
- p.Glu11Val
- gnomAD 7-129189183-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.31
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available