R357C (p.Arg357Cys) variant of MTHFR (P42898)
R357C (p.Arg357Cys) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R357C (p.Arg357Cys) variant details
- p.Arg357Cys
- rs779993607
- ClinGen CA595453
- cosmic curated COSV10653
- ClinVar RCV001999864
- Pathogenic/Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tu
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe… (PMID 7726158)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)