K83T (p.Lys83Thr) variant of HBB (Hemoglobin subunit beta)
K83T (p.Lys83Thr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN RAHERE; Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
K83T (p.Lys83Thr) variant details
- p.Lys83Thr
- rs33987903
- ClinGen CA125118
- ClinVar RCV000016561
- ClinVar RCV000641593
- Pathogenic; other
- HEMOGLOBIN RAHERE; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- ESM-1b 1.00
- AlphaMissense 0.81
- ClinVar: Pathogenic; other (HEMOGLOBIN RAHERE; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Providence)
- UniProt: Pathogenic (in Providence)
- Structural context available
- Cited in: Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate… (PMID 124)
- Cited in: Hemoglobin Rahere, a human hemoglobin variant with amino acid substitution at the 2,3-diphosphoglycerate binding site.… (PMID 3930571)