E44D (p.Glu44Asp) variant of MBP (Myelin basic protein)
E44D (p.Glu44Asp) 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, published literature, and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- rs1599445391
- gnomAD 18-76980465-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.36
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available