G9V (p.Gly9Val) variant of SMO (Protein smoothened)
G9V (p.Gly9Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD 7-129189177-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available