E48Q (p.Glu48Gln) variant of MBP (Myelin basic protein)
E48Q (p.Glu48Gln) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- ExAC rs777446235
- gnomAD rs777446235
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.11
- CADD 24.00
- PolyPhen-2 0.50
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available