A2V (p.Ala2Val) variant of SMO (Protein smoothened)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1563144479
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.41
- MetaLR 0.33
- MetaSVM -0.49
- CADD 25.00
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available