M1T (p.Met1Thr) variant of HBB (Hemoglobin subunit beta)
M1T (p.Met1Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Beta-thalassemia HBB/LCRB; METHEMOGLOBINEMIA, BETA TYPE; Heinz body anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs33941849
- ClinGen CA125301
- ClinVar RCV000016692
- ClinVar RCV000016693
- Pathogenic
- Beta-thalassemia HBB/LCRB; METHEMOGLOBINEMIA, BETA TYPE; Heinz body anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- ESM-1b 1.00
- AlphaMissense 0.54
- ClinVar: Pathogenic (Beta-thalassemia HBB/LCRB; METHEMOGLOBINEMIA, BETA TYPE; Heinz b)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: An initiation codon mutation as a cause of a beta-thalassemia. (PMID 2272840)
- Cited in: De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family. (PMID 8094943)