E27G (p.Glu27Gly) variant of HBB (Hemoglobin subunit beta)
E27G (p.Glu27Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of in Henri Mondor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- rs33915112
- ClinGen CA125438
- ClinVar RCV000016820
- Ensembl rs33915112
- Pathogenic
- in Henri Mondor
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- ESM-1b 1.00
- AlphaMissense 0.67
- ClinVar: Pathogenic (in Henri Mondor)
- EBI: Pathogenic (in Henri Mondor)
- UniProt: Pathogenic (in Henri Mondor)
- Structural context available
- Cited in: Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E. (PMID 8811314)