E23* (p.Glu23Ter) variant of HBB (Hemoglobin subunit beta)
E23* (p.Glu23Ter) 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 D-Granada. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- rs33959855
- ClinGen CA217115260
- cosmic curated COSV58943
- ClinVar RCV001078431
- Pathogenic
- in D-Granada
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.888
- CADD 36.00
- EBI: Pathogenic (in D-Granada)
- UniProt: Pathogenic (in D-Granada)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)
- Cited in: Beta-Thalassemia. (PMID 20301599)