H93Q (p.His93Gln) variant of HBB (Hemoglobin subunit beta)
H93Q (p.His93Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
H93Q (p.His93Gln) variant details
- p.His93Gln
- rs34083951
- ClinGen CA217113620
- ClinVar RCV003447721
- gnomAD rs34083951
- Likely pathogenic
- Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Beta-thalassemia HBB/LCRB)
- EBI: Pathogenic (in Istambul)
- UniProt: Pathogenic (in Istambul)
- Structural context available
- Cited in: Differences between individuals with hemoglobins Istanbul and Saint-Etienne (alpha 2 beta 2 92F8 His replaced by Gln). (PMID 111458)
- Cited in: Structural studies of hemoglobin Saint Etienne beta 92 (F8) his --> GLN: A new abnormal hemoglobin with loss of beta… (PMID 11946811)