M1R (p.Met1Arg) variant of HBB (Hemoglobin subunit beta)
M1R (p.Met1Arg) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs33941849
- ClinGen CA125299
- ClinVar RCV000016691
- ClinVar RCV000505904
- Pathogenic
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- ESM-1b 1.00
- AlphaMissense 0.74
- ClinVar: Pathogenic (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene. (PMID 1586746)
- Cited in: Beta-Thalassemia. (PMID 20301599)