A3D (p.Ala3Asp) variant of SMO (Protein smoothened)
A3D (p.Ala3Asp) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 7-129189159-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available