A89S (p.Ala89Ser) variant of HBA1 (Hemoglobin subunit alpha)
A89S (p.Ala89Ser) 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 Erythrocytosis, familial, 7; HEMOGLOBIN LOIRE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A89S (p.Ala89Ser) variant details
- p.Ala89Ser
- rs35239527
- ClinGen CA125813
- ClinVar RCV000017096
- ClinVar RCV000656378
- Pathogenic; other
- Erythrocytosis, familial, 7; HEMOGLOBIN LOIRE
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 0.63
- MetaLR 0.83
- MetaSVM 0.77
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 7; HEMOGLOBIN LOIRE)
- EBI: Pathogenic (in Loire)
- UniProt: Pathogenic (in Loire)
- Population evidence available
- Structural context available
- Cited in: Increased oxygen affinity with normal heterotropic effects in hemoglobin Loire [alpha 88(F9)Ala----Ser]. (PMID 3142772)