E102Q (p.Glu102Gln) variant of HBB (Hemoglobin subunit beta)
E102Q (p.Glu102Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
E102Q (p.Glu102Gln) variant details
- p.Glu102Gln
- rs33966487
- ClinGen CA125136
- ClinVar RCV000016572
- UniProt VAR 003024
- Likely pathogenic
- beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- ESM-1b 1.00
- AlphaMissense 0.44
- ClinVar: Likely pathogenic (beta Thalassemia)
- EBI: Pathogenic (in Rush)
- UniProt: Pathogenic (in Rush)
- Structural context available
- Cited in: Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin causing mild hemolytic anemia. (PMID 4129558)
- Cited in: The structure of hemoglobin Indianapolis [beta112(G14) arginine]. An unstable variant detectable only by isotopic… (PMID 429365)