E23Q (p.Glu23Gln) variant of HBB (Hemoglobin subunit beta)
E23Q (p.Glu23Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs33959855
- ClinGen CA124822
- ClinVar RCV000016314
- ClinVar RCV000589411
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.54
- ESM-1b 0.51
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.40
- CADD 14.40
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic (in D-Iran)
- UniProt: Pathogenic (in D-Iran)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser. (PMID 6434492)
- Cited in: Sickle cell-hemoglobin D Iran: benign sickle cell syndrome. (PMID 7073867)