E102K (p.Glu102Lys) variant of HBB (Hemoglobin subunit beta)
E102K (p.Glu102Lys) 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 BRITISH COLUMBIA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
E102K (p.Glu102Lys) variant details
- p.Glu102Lys
- rs33966487
- ClinGen CA124764
- ClinVar RCV000016274
- ClinVar RCV000641420
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN BRITISH COLUMBIA
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.88
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN BRITISH COLUMBIA)
- EBI: Pathogenic (in British Columbia)
- UniProt: Pathogenic (in British Columbia)
- Structural context available
- Cited in: Hemoglobin British Columbia (alpha2beta2 101(G3)Glu replaced by Lys). A new variant with high oxygen affinity. (PMID 1052179)
- Cited in: Asymmetric hybrids formed with hemoglobin British Columbia (alpha 2 beta 2101Glu----Lys). (PMID 6500987)