E102G (p.Glu102Gly) variant of HBB (Hemoglobin subunit beta)
E102G (p.Glu102Gly) 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 Erythrocytosis, familial, 6; HEMOGLOBIN ALBERTA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E102G (p.Glu102Gly) variant details
- p.Glu102Gly
- rs33937393
- ClinGen CA124720
- ClinVar RCV000016247
- ClinVar RCV000641405
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN ALBERTA
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- ESM-1b 1.00
- AlphaMissense 0.57
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN ALBERTA)
- EBI: Pathogenic (in Alberta)
- UniProt: Pathogenic (in Alberta)
- Structural context available
- Cited in: Hb-Alberta or alpha2beta2 (101(G3) Glu replaced by Gly), a new high-oxygen-affinity hemoglobin variant causing… (PMID 1052180)
- Cited in: A second patient with hemoglobin Alberta, a high-oxygen-affinity variant causing erythrocytosis and forming asymmetric… (PMID 750556)