E586K (p.Glu586Lys) variant of MTHFR (P42898)
E586K (p.Glu586Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
E586K (p.Glu586Lys) variant details
- p.Glu586Lys
- rs983672500
- UniProt VAR 009537
- TOPMed rs983672500
- gnomAD rs983672500
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.82
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)
- Cited in: Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase… (PMID 20236116)