A7E (p.Ala7Glu) variant of SMO (Protein smoothened)
A7E (p.Ala7Glu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- TOPMed rs1317452947
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.35
- MetaLR 0.20
- MetaSVM -0.88
- CADD 16.10
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available