P66L (p.Pro66Leu) variant of MTHFR (P42898)
P66L (p.Pro66Leu) in MTHFR (P42898) is a missense change. The available record places it in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs796064512
- ClinGen CA204396
- ClinVar RCV000190392
- Ensembl rs796064512
- not provided
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: not provided (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- UniProt: Not provided
- Structural context available