A51E (p.Ala51Glu) variant of MBP (Myelin basic protein)
A51E (p.Ala51Glu) 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.
A51E (p.Ala51Glu) variant details
- p.Ala51Glu
- gnomAD rs1377507467
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.33
- CADD 21.60
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available