E27D (p.Glu27Asp) variant of HBB (Hemoglobin subunit beta)
E27D (p.Glu27Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemoglobinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs281864581
- Ensembl rs281864581
- ClinGen CA217115164
- ClinVar RCV000736023
- Pathogenic
- Hemoglobinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- ESM-1b 0.64
- AlphaMissense 0.44
- ClinVar: Pathogenic (Hemoglobinopathy)
- EBI: Pathogenic (in Henri Mondor)
- UniProt: Pathogenic (in Henri Mondor)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis… (PMID 25052315)