E24D (p.Glu24Asp) variant of HBA1 (Hemoglobin subunit alpha)
E24D (p.Glu24Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN LISBON. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- rs281860684
- ClinGen CA125973
- ClinVar RCV000017208
- Ensembl rs281860684
- other
- HEMOGLOBIN LISBON
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.05
- MetaLR 0.59
- MetaSVM -0.47
- SIFT 0.26
- MutPred 0.68
- ClinVar: other (HEMOGLOBIN LISBON)
- UniProt: Other (in Chad)
- Structural context available
- Cited in: Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras [alpha 7(A5)Lys-->Asn] and HB Lisbon… (PMID 7713746)