A2D (p.Ala2Asp) variant of SMO (Protein smoothened)
A2D (p.Ala2Asp) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD rs1563144479
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.40
- MetaLR 0.42
- MetaSVM -0.08
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available