Y146N (p.Tyr146Asn) variant of HBB (Hemoglobin subunit beta)
Y146N (p.Tyr146Asn) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dominant beta-thalassemia; Heinz body anemia; Malaria, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
Y146N (p.Tyr146Asn) variant details
- p.Tyr146Asn
- rs33949869
- ClinGen CA217112211
- ClinVar RCV000781441
- ClinVar RCV001839458
- Pathogenic
- Dominant beta-thalassemia; Heinz body anemia; Malaria, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic (Dominant beta-thalassemia; Heinz body anemia; Malaria, susceptib)
- EBI: Pathogenic (in Bethesda)
- UniProt: Pathogenic (in Bethesda)
- Structural context available
- Cited in: Polycythemia produced by hemoglobin Osler (beta-145 (HC2) Tyr yields Asp). (PMID 1117598)
- Cited in: Hemoglobin Fort Gordon or alpha2beta2145 Tyr replaced by Asp, a new high-oxygen-affinity hemoglobin variant. (PMID 1164510)