G16V (p.Gly16Val) variant of SMO (Protein smoothened)
G16V (p.Gly16Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 7-129189198-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.30
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available