E27* (p.Glu27Ter) variant of HBB (Hemoglobin subunit beta)
E27* (p.Glu27Ter) 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 Henri Mondor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs33950507
- ClinGen CA217115188
- ClinVar RCV000507549
- ClinVar RCV000674991
- Pathogenic
- in Henri Mondor
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 32.00
- EBI: Pathogenic (in Henri Mondor)
- UniProt: Pathogenic (in Henri Mondor)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Beta-Thalassemia. (PMID 20301599)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)