Q53H (p.Gln53His) variant of MBP (Myelin basic protein)
Q53H (p.Gln53His) in MBP (Myelin basic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q53H (p.Gln53His) variant details
- p.Gln53His
- ExAC rs755092177
- TOPMed rs755092177
- gnomAD rs755092177
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.20
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available