L89V (p.Leu89Val) variant of MTHFR (P42898)
L89V (p.Leu89Val) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes population frequency data and structural context.
L89V (p.Leu89Val) variant details
- p.Leu89Val
- rs1042792109
- ClinGen CA17974723
- ClinVar RCV001308833
- TOPMed rs1042792109
- Uncertain significance
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Uncertain significance (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available