E27Q (p.Glu27Gln) variant of HBB (Hemoglobin subunit beta)
E27Q (p.Glu27Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Henri Mondor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- 1000Genomes rs33950507
- ExAC rs33950507
- TOPMed rs33950507
- gnomAD rs33950507
- Pathogenic
- in Henri Mondor
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- ESM-1b 1.00
- AlphaMissense 0.31
- EBI: Pathogenic (in Henri Mondor)
- UniProt: Pathogenic (in Henri Mondor)
- Structural context available