V2E (p.Val2Glu) variant of HBB (Hemoglobin subunit beta)
V2E (p.Val2Glu) 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 DOHA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
V2E (p.Val2Glu) variant details
- p.Val2Glu
- rs33949930
- ClinGen CA124834
- ClinVar RCV000016327
- TOPMed rs33949930
- other
- HEMOGLOBIN DOHA
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- ESM-1b 1.00
- AlphaMissense 0.81
- ClinVar: other (HEMOGLOBIN DOHA)
- EBI: Likely benign (in Raleigh)
- UniProt: Likely benign (in Raleigh)
- Structural context available
- Cited in: Ethnological significance of hemoglobin alpha-2 beta-2 121 LYS. (PMID 5633723)