D100H (p.Asp100His) variant of HBB (Hemoglobin subunit beta)
D100H (p.Asp100His) 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 YAKIMA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
D100H (p.Asp100His) variant details
- p.Asp100His
- rs33954595
- ClinGen CA125239
- ClinVar RCV000016644
- ClinVar RCV000641624
- Pathogenic; other
- Erythrocytosis, familial, 6; HEMOGLOBIN YAKIMA
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 6; HEMOGLOBIN YAKIMA)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Structural context available
- Cited in: Hemoglobin Yakina. I. Clinical and biochemical studies. (PMID 6061751)
- Cited in: Hemoglobin Yakina. II. High blood oxygen affinity associated with compensatory erythrocytosis and normal hemodynamics. (PMID 6061752)