H201P (p.His201Pro) variant of MTHFR (P42898)
H201P (p.His201Pro) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes published literature and structural context.
H201P (p.His201Pro) variant details
- p.His201Pro
- rs1644256586
- ClinGen CA338481072
- ClinVar RCV001281375
- ClinVar RCV005606799
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)