M49V (p.Met49Val) variant of MTHFR (P42898)
M49V (p.Met49Val) 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 structural context.
M49V (p.Met49Val) variant details
- p.Met49Val
- rs1570498105
- ClinGen CA338423075
- ClinVar RCV000822910
- Ensembl rs1570498105
- 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
- Structural context available