E91D (p.Glu91Asp) variant of HBB (Hemoglobin subunit beta)
E91D (p.Glu91Asp) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E91D (p.Glu91Asp) variant details
- p.Glu91Asp
- rs35002698
- Ensembl rs35002698
- ClinGen CA125102
- ClinVar RCV000016551
- Pathogenic
- Hemoglobinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.67
- ESM-1b 0.61
- AlphaMissense 0.46
- MetaLR 0.67
- MetaSVM 0.10
- CADD 17.20
- ClinVar: Pathogenic (Hemoglobinopathy)
- EBI: Pathogenic (in Pierre-Benite)
- UniProt: Pathogenic (in Pierre-Benite)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Hemoglobin Pierre-Bénite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family. (PMID 3384709)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)