A3S (p.Ala3Ser) variant of SMO (Protein smoothened)
A3S (p.Ala3Ser) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- 1000Genomes rs562868539
- TOPMed rs562868539
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.85
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available