E24Q (p.Glu24Gln) variant of HBA1 (Hemoglobin subunit alpha)
E24Q (p.Glu24Gln) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN MEMPHIS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
E24Q (p.Glu24Gln) variant details
- p.Glu24Gln
- rs33939620
- ClinGen CA125823
- ClinVar RCV000017108
- gnomAD rs33939620
- other
- HEMOGLOBIN MEMPHIS
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- AlphaMissense 0.29
- MetaLR 0.74
- MetaSVM 0.24
- SIFT 0.01
- MutPred 0.85
- ClinVar: other (HEMOGLOBIN MEMPHIS)
- EBI: Pathogenic (in Chad)
- UniProt: Pathogenic (in Chad)
- Structural context available
- Cited in: A third case of hemoglobin Memphis-sickle cell disease. Whole blood viscosity used as a screening test. (PMID 4743350)
- Cited in: Hemoglobin Memphis/S. A new variant of sickle cell anemia. (PMID 6082248)