A3V (p.Ala3Val) variant of SMO (Protein smoothened)
A3V (p.Ala3Val) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- Ensembl rs2150637719
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.34
- MetaLR 0.23
- MetaSVM -0.74
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available