E44K (p.Glu44Lys) variant of MBP (Myelin basic protein)
E44K (p.Glu44Lys) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- TOPMed rs1599173711
- gnomAD rs1599173711
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.14
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available