R46Q (p.Arg46Gln) variant of MTHFR (P42898)
R46Q (p.Arg46Gln) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- rs776483190
- ClinGen CA198559
- ClinVar RCV000167587
- ClinVar RCV003468812
- Likely pathogenic
- Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.27
- CADD 18.30
- PolyPhen-2 0.08
- SIFT 0.44
- ClinVar: Likely pathogenic (Neural tube defects, folate-sensitive; Homocystinuria due to met)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)