G24E (p.Gly24Glu) variant of SMO (Protein smoothened)
G24E (p.Gly24Glu) in SMO (Protein smoothened) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- TOPMed rs989530778
- gnomAD rs989530778
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.93
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available