S90N (p.Ser90Asn) variant of HBB (Hemoglobin subunit beta)
S90N (p.Ser90Asn) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic; other in the context of Erythrocytosis, familial, 6; beta Thalassemia; HEMOGLOBIN CRETEIL. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
S90N (p.Ser90Asn) variant details
- p.Ser90Asn
- rs33917628
- ClinGen CA124814
- ClinVar RCV000016310
- ClinVar RCV000641434
- Pathogenic/Likely pathogenic; other
- Erythrocytosis, familial, 6; beta Thalassemia; HEMOGLOBIN CRETEIL
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic/Likely pathogenic; other (Erythrocytosis, familial, 6; beta Thalassemia; HEMOGLOBIN CRETEI)
- EBI: Pathogenic (in Creteil)
- UniProt: Pathogenic (in Creteil)
- Structural context available
- Cited in: Hemoglobin Creteil: oxygen transport by erythrocytes. In-vitro and in-vivo studies in a high oxygen-affinity mutant… (PMID 27132)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)