A2G (p.Ala2Gly) variant of SMO (Protein smoothened)
A2G (p.Ala2Gly) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD rs1563144479
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.36
- MetaLR 0.38
- MetaSVM -0.43
- CADD 24.90
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available