D100A (p.Asp100Ala) variant of HBB (Hemoglobin subunit beta)
D100A (p.Asp100Ala) 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 HEMOGLOBIN RADCLIFFE; 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.
D100A (p.Asp100Ala) variant details
- p.Asp100Ala
- rs33971048
- ClinGen CA125108
- ClinVar RCV000016555
- ClinVar RCV000641589
- Pathogenic; other
- HEMOGLOBIN RADCLIFFE; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic; other (HEMOGLOBIN RADCLIFFE; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Structural context available
- Cited in: HEMOGLOBIN J (BALTIMORE) COEXISTING IN A FAMILY WITH HEMOGLOBIN S. (PMID 14117783)