A28S (p.Ala28Ser) variant of HBB (Hemoglobin subunit beta)
A28S (p.Ala28Ser) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs35424040
- ClinGen CA124983
- ClinVar RCV000016439
- ClinVar RCV000016440
- Pathogenic
- Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.71
- MetaSVM 0.20
- CADD 23.30
- ClinVar: Pathogenic (Beta-thalassemia HBB/LCRB)
- EBI: Pathogenic (in Knossos)
- UniProt: Pathogenic (in Knossos)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser]… (PMID 2467892)
- Cited in: Hemoglobin Knossos [alpha 2 beta 2(27)(B9)Ala----Ser] in Egypt. (PMID 3114175)