A54T (p.Ala54Thr) variant of HBB (Hemoglobin subunit beta)
A54T (p.Ala54Thr) 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 Heinz body anemia; METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- ExAC rs36005841
- gnomAD rs36005841
- Likely pathogenic
- Heinz body anemia; METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.92
- MetaSVM 1.04
- CADD 25.30
- ClinVar: Likely pathogenic (Heinz body anemia; METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-t)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available