R93Q (p.Arg93Gln) variant of HBA1 (Hemoglobin subunit alpha)
R93Q (p.Arg93Gln) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN J (CAPE TOWN); Erythrocytosis, familial, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R93Q (p.Arg93Gln) variant details
- p.Arg93Gln
- rs33991779
- ClinGen CA125771
- ClinVar RCV000017062
- ClinVar RCV000641166
- Pathogenic; other
- HEMOGLOBIN J (CAPE TOWN); Erythrocytosis, familial, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.87
- MetaLR 0.84
- MetaSVM 0.83
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic; other (HEMOGLOBIN J (CAPE TOWN); Erythrocytosis, familial, 7)
- EBI: Pathogenic (in J-Cape Town)
- UniProt: Pathogenic (in J-Cape Town)
- Structural context available
- Cited in: The haematological puzzle of Hb J Cape Town is partly solved. (PMID 3718876)
- Cited in: Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2. (PMID 5988206)