L69H (p.Leu69His) variant of HBB (Hemoglobin subunit beta)
L69H (p.Leu69His) 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 BRISBANE; HEMOGLOBIN GREAT LAKES. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L69H (p.Leu69His) variant details
- p.Leu69His
- rs33972593
- ClinGen CA124762
- ClinVar RCV000016272
- ClinVar RCV000016273
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN BRISBANE; HEMOGLOBIN GREAT LAKES
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN BRISBANE; HEMOGLOBIN GRE)
- EBI: Pathogenic (in Brisbane)
- UniProt: Pathogenic (in Brisbane)
- Structural context available
- Cited in: Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant. (PMID 6166590)
- Cited in: Hb Brisbane (beta 68 (E12) Leu replaced by His) is unstable. (PMID 6629830)