E13* (p.Glu13Ter) variant of MBP (Myelin basic protein)
E13* (p.Glu13Ter) in MBP (Myelin basic protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- cosmic curated COSV63556
- ExAC rs779270491
- TOPMed rs779270491
- gnomAD rs779270491
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 35.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available