G9E (p.Gly9Glu) variant of SMO (Protein smoothened)
G9E (p.Gly9Glu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G9E (p.Gly9Glu) variant details
- p.Gly9Glu
- gnomAD 7-129189177-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available