E48D (p.Glu48Asp) variant of MOG (Q16653)
E48D (p.Glu48Asp) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- TOPMed rs1767957533
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.04
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available