R46W (p.Arg46Trp) variant of MTHFR (P42898)
R46W (p.Arg46Trp) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Homocystinuria due to methylene tetrahydrofolate reductase defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- rs138189536
- ClinGen CA198556
- cosmic curated COSV10942
- ClinVar RCV000167586
- Conflicting interpretations
- not specified; Homocystinuria due to methylene tetrahydrofolate reductase defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.52
- CADD 24.70
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; Homocystinuria due to methylene tetrahydrofolate)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- 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)