D100N (p.Asp100Asn) variant of HBB (Hemoglobin subunit beta)
D100N (p.Asp100Asn) 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 KEMPSEY; 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.
D100N (p.Asp100Asn) variant details
- p.Asp100Asn
- rs33954595
- ClinGen CA124977
- ClinVar RCV000016436
- ClinVar RCV000641495
- Pathogenic; other
- HEMOGLOBIN KEMPSEY; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.992
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic; other (HEMOGLOBIN KEMPSEY; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Structural context available
- Cited in: Erythrocytosis secondary to increased oxygen affinity of a mutant hemoglobin, hemoglobin Kempsey. (PMID 5651043)