E48D (p.Glu48Asp) variant of MBP (Myelin basic protein)
E48D (p.Glu48Asp) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- ExAC rs763253942
- TOPMed rs763253942
- gnomAD rs763253942
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.24
- SIFT 0.04
- Population evidence available
- Structural context available