D100Y (p.Asp100Tyr) variant of HBB (Hemoglobin subunit beta)
D100Y (p.Asp100Tyr) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Erythrocytosis, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
D100Y (p.Asp100Tyr) variant details
- p.Asp100Tyr
- rs33954595
- ClinGen CA125249
- ClinVar RCV000016650
- ClinVar RCV000641630
- Pathogenic
- Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.989
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic (Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Structural context available
- Cited in: Familial erythrocytosis. A description of three families, one with hemoglobin Ypsilanti. (PMID 5687529)