E13K (p.Glu13Lys) variant of MBP (Myelin basic protein)
E13K (p.Glu13Lys) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- ExAC rs779270491
- TOPMed rs779270491
- gnomAD rs779270491
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- CADD 18.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available