L628P (p.Leu628Pro) variant of MTHFR (P42898)
L628P (p.Leu628Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
L628P (p.Leu628Pro) variant details
- p.Leu628Pro
- rs786204037
- ClinGen CA198661
- ClinVar RCV000167625
- UniProt VAR 074150
- Pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- AlphaMissense 0.06
- MetaLR 0.27
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.58
- EVE 0.04
- ClinVar: Pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)