E24* (p.Glu24Ter) variant of HBA1 (Hemoglobin subunit alpha)
E24* (p.Glu24Ter) in HBA1 (Hemoglobin subunit alpha) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in Chad. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- gnomAD rs33939620
- Pathogenic
- in Chad
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 33.00
- EBI: Pathogenic (in Chad)
- UniProt: Pathogenic (in Chad)
- Population evidence available
- Structural context available
- Cited in: A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. (PMID 15481894)