E7M (p.Glu7Met) variant of HBB (Hemoglobin subunit beta)
E7M (p.Glu7Met) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
E7M (p.Glu7Met) variant details
- p.Glu7Met
- rs193922552
- ClinGen CA342851
- ClinVar RCV000029966
- Ensembl rs193922552
- Likely pathogenic
- beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- ESM-1b 1.00
- AlphaMissense 0.53
- ClinVar: Likely pathogenic (beta Thalassemia)
- EBI: Likely pathogenic (in SKCA)
- UniProt: Likely pathogenic (in SKCA)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)