A3T (p.Ala3Thr) variant of SMO (Protein smoothened)
A3T (p.Ala3Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- 1000Genomes rs562868539
- TOPMed rs562868539
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- MetaLR 0.21
- MetaSVM -0.90
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available