A7T (p.Ala7Thr) variant of SMO (Protein smoothened)
A7T (p.Ala7Thr) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- Ensembl rs2150637735
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.24
- MetaLR 0.20
- MetaSVM -0.90
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available