H147D (p.His147Asp) variant of HBB (Hemoglobin subunit beta)
H147D (p.His147Asp) 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 HIROSHIMA; 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.
H147D (p.His147Asp) variant details
- p.His147Asp
- rs33961444
- ClinGen CA124910
- ClinVar RCV000016383
- ClinVar RCV000641470
- Pathogenic; other
- HEMOGLOBIN HIROSHIMA; Erythrocytosis, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic; other (HEMOGLOBIN HIROSHIMA; Erythrocytosis, familial, 6)
- EBI: Pathogenic (in Hiroshima)
- UniProt: Pathogenic (in Hiroshima)
- Structural context available
- Cited in: Structure and subunit interaction of haemoglobin M Milwaukee. (PMID 4338724)
- Cited in: Hemoglobin Hiroshima (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated… (PMID 5773089)