E50* (p.Glu50Ter) variant of MOG (Q16653)
E50* (p.Glu50Ter) in MOG (Q16653) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- gnomAD 6-29659378-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available