K372E (p.Lys372Glu) variant of MTHFR (P42898)
K372E (p.Lys372Glu) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes published literature and structural context.
K372E (p.Lys372Glu) variant details
- p.Lys372Glu
- rs786204024
- ClinGen CA198626
- ClinVar RCV000167610
- UniProt VAR 074141
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)