E27A (p.Glu27Ala) variant of HBB (Hemoglobin subunit beta)
E27A (p.Glu27Ala) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN TRIPOLI. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- rs33915112
- ClinGen CA125532
- ClinVar RCV000016881
- Ensembl rs33915112
- other
- HEMOGLOBIN TRIPOLI
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- ESM-1b 1.00
- AlphaMissense 0.47
- ClinVar: other (HEMOGLOBIN TRIPOLI)
- EBI: Pathogenic (in Henri Mondor)
- UniProt: Pathogenic (in Henri Mondor)
- Structural context available
- Cited in: Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser]. (PMID 15481887)