E7* (p.Glu7Ter) variant of HBB (Hemoglobin subunit beta)
E7* (p.Glu7Ter) in HBB (Hemoglobin subunit beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SKCA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- rs33930165
- ClinGen CA379274985
- ClinVar RCV001078259
- 1000Genomes rs33930165
- Pathogenic
- in SKCA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 36.00
- EBI: Pathogenic (in SKCA)
- UniProt: Pathogenic (in SKCA)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)