A4D (p.Ala4Asp) variant of SMO (Protein smoothened)
A4D (p.Ala4Asp) 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 and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- Ensembl rs1214436136
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.32
- MetaLR 0.20
- MetaSVM -0.91
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available