E7Q (p.Glu7Gln) variant of HBB (Hemoglobin subunit beta)
E7Q (p.Glu7Gln) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- rs33930165
- ClinGen CA124989
- ClinVar RCV000016448
- ClinVar RCV005055515
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 0.00
- AlphaMissense 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in Machida)
- UniProt: Pathogenic (in Machida)
- Population evidence available
- Structural context available
- Cited in: Hemoglobin Ankara [beta 10 (A 7) Ala substituting for Asp]: properties and biosynthesis. (PMID 7338476)