A71E (p.Ala71Glu) variant of MBP (Myelin basic protein)
A71E (p.Ala71Glu) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A71E (p.Ala71Glu) variant details
- p.Ala71Glu
- ExAC rs748030999
- TOPMed rs748030999
- gnomAD rs748030999
- Missense
- Variant Prioritization Score for Impact Estimate 0.0684
- REVEL 0.03
- CADD 7.71
- PolyPhen-2 0.03
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available