A28T (p.Ala28Thr) variant of HBB (Hemoglobin subunit beta)
A28T (p.Ala28Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- ExAC rs35424040
- TOPMed rs35424040
- gnomAD rs35424040
- Likely pathogenic
- Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- ESM-1b 0.51
- AlphaMissense 0.16
- ClinVar: Likely pathogenic (Beta-thalassemia HBB/LCRB)
- EBI: Pathogenic (in Grange-blanche)
- UniProt: Pathogenic (in Grange-blanche)
- Structural context available