V68E (p.Val68Glu) variant of HBB (Hemoglobin subunit beta)
V68E (p.Val68Glu) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of METHEMOGLOBINEMIA, BETA TYPE; HEMOGLOBIN M (MILWAUKEE 1). The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
V68E (p.Val68Glu) variant details
- p.Val68Glu
- rs33918343
- ClinGen CA125007
- ClinVar RCV000016462
- ClinVar RCV000641512
- Pathogenic; other
- METHEMOGLOBINEMIA, BETA TYPE; HEMOGLOBIN M (MILWAUKEE 1)
- Missense
- Variant Prioritization Score for Impact Estimate 0.993
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Pathogenic; other (METHEMOGLOBINEMIA, BETA TYPE; HEMOGLOBIN M (MILWAUKEE 1))
- EBI: Pathogenic (in Alesha)
- UniProt: Pathogenic (in Alesha)
- Structural context available
- Cited in: Clinical and laboratory features of two variants of methemoglobin M disease. (PMID 13665153)
- Cited in: Chemical studies of several varieties of Hb M. (PMID 13897827)