A28S (p.Ala28Ser) variant of HBD (Hemoglobin subunit delta)
A28S (p.Ala28Ser) in HBD (Hemoglobin subunit delta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Fetal hemoglobin quantitative trait locus 1; Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs35152987
- ClinGen CA124682
- ClinVar RCV000016221
- ClinVar RCV000016222
- Conflicting interpretations
- not provided; Fetal hemoglobin quantitative trait locus 1; Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.63
- MetaSVM -0.05
- CADD 16.20
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fetal hemoglobin quantitative trait locus 1; Thala)
- EBI: Pathogenic (in Yialousa)
- UniProt: Pathogenic (in Yialousa)
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Cited in: Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. (PMID 12402333)
- Cited in: Delta + 27 homozygosis in a Sicilian family. (PMID 1398286)