A4V (p.Ala4Val) variant of SMO (Protein smoothened)
A4V (p.Ala4Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- Ensembl rs1214436136
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.30
- MetaLR 0.20
- MetaSVM -0.91
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available