E13Q (p.Glu13Gln) variant of MBP (Myelin basic protein)
E13Q (p.Glu13Gln) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- ExAC rs779270491
- TOPMed rs779270491
- gnomAD rs779270491
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.04
- CADD 14.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available