I225L (p.Ile225Leu) variant of MTHFR (P42898)
I225L (p.Ile225Leu) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes population frequency data, published literature, and structural context.
I225L (p.Ile225Leu) variant details
- p.Ile225Leu
- rs200100285
- ClinGen CA198595
- ClinVar RCV000167599
- UniProt VAR 074129
- Pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Population evidence available
- 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)