Q78E (p.Gln78Glu) variant of MBP (Myelin basic protein)
Q78E (p.Gln78Glu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q78E (p.Gln78Glu) variant details
- p.Gln78Glu
- gnomAD 18-76979983-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 9.17
- Population evidence available
- Structural context available
- Literature evidence available