D127H (p.Asp127His) variant of HBA1 (Hemoglobin subunit alpha)
D127H (p.Asp127His) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of HEMOGLOBIN SASSARI; Erythrocytosis, familial, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D127H (p.Asp127His) variant details
- p.Asp127His
- rs63750950
- ClinGen CA125875
- ClinVar RCV000017148
- ClinVar RCV000641208
- Pathogenic; other
- HEMOGLOBIN SASSARI; Erythrocytosis, familial, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.96
- MetaLR 0.87
- MetaSVM 0.89
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic; other (HEMOGLOBIN SASSARI; Erythrocytosis, familial, 7)
- EBI: Pathogenic (in Montefiore)
- UniProt: Pathogenic (in Montefiore)
- Structural context available
- Cited in: Hemoglobinopathies in Sardinia. (PMID 1517114)
- Cited in: Functional and NMR studies of Hb Sassari (Asp-126 alpha----His); role of the inter-subunit contacts in the affinity… (PMID 2268670)