E8* (p.Glu8Ter) variant of HBB (Hemoglobin subunit beta)
E8* (p.Glu8Ter) 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 G-Siriraj. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- rs34948328
- ClinGen CA379274972
- ClinVar RCV001078316
- ClinVar RCV003478695
- Pathogenic
- in G-Siriraj
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 37.00
- EBI: Pathogenic (in G-Siriraj)
- UniProt: Pathogenic (in G-Siriraj)
- Population evidence available
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)