E44G (p.Glu44Gly) variant of MBP (Myelin basic protein)
E44G (p.Glu44Gly) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- gnomAD 18-76980463-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 16.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available