A2T (p.Ala2Thr) variant of SMO (Protein smoothened)
A2T (p.Ala2Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- Ensembl rs2150637710
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.56
- CADD 26.20
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available