M1K (p.Met1Lys) variant of MTHFR (P42898)
M1K (p.Met1Lys) 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 structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1644429362
- ClinGen CA338423386
- ClinVar RCV003093571
- Pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available