E8Q (p.Glu8Gln) variant of HBB (Hemoglobin subunit beta)
E8Q (p.Glu8Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in G-Siriraj. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- TOPMed rs34948328
- Pathogenic
- in G-Siriraj
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.76
- MetaLR 0.62
- MetaSVM 0.03
- SIFT 0.04
- EBI: Pathogenic (in G-Siriraj)
- UniProt: Pathogenic (in G-Siriraj)
- Structural context available