N20S (p.Asn20Ser) variant of HBB (Hemoglobin subunit beta)
N20S (p.Asn20Ser) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
N20S (p.Asn20Ser) variant details
- p.Asn20Ser
- rs33972047
- ClinGen CA125015
- ClinVar RCV000016479
- ClinVar RCV000016480
- Pathogenic
- not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Pathogenic (not provided; beta Thalassemia)
- EBI: Pathogenic (in Malay)
- UniProt: Pathogenic (in Malay)
- Structural context available
- Cited in: Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia… (PMID 2736244)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)