H98Q (p.His98Gln) variant of HBB (Hemoglobin subunit beta)
H98Q (p.His98Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
H98Q (p.His98Gln) variant details
- p.His98Gln
- rs34515413
- ClinGen CA217113536
- ClinVar RCV000985742
- ESP rs34515413
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- ESM-1b 1.00
- AlphaMissense 0.90
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in Malmoe)
- UniProt: Pathogenic (in Malmoe)
- Structural context available
- Cited in: Fibrosis and carcinoma of the lung in a family with haemoglobin Malmö. Anatomic findings. (PMID 4342316)
- Cited in: Hemoglobin Malmö Beta-97 (FG-4) histidine--glutamine: a cause of polycythemia. (PMID 5011106)