E23V (p.Glu23Val) variant of HBB (Hemoglobin subunit beta)
E23V (p.Glu23Val) 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 Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
E23V (p.Glu23Val) variant details
- p.Glu23Val
- rs33936254
- ClinGen CA124818
- ClinVar RCV000016312
- ClinVar RCV000759803
- Uncertain significance
- Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia HBB/LCRB
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- ESM-1b 1.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Erythrocytosis, familial, 6; Heinz body anemia; Beta-thalassemia)
- EBI: Benign (in D-Granada)
- UniProt: Benign (in D-Granada)
- Structural context available
- Cited in: Hemoglobin kenitra alpha 2 beta 2 69 (E13) Gly----Arg. A new beta variant of elevated expression associated with… (PMID 3838975)
- Cited in: Beta-Thalassemia. (PMID 20301599)