R52Q (p.Arg52Gln) variant of MTHFR (P42898)
R52Q (p.Arg52Gln) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Neural tube defects, folate-sensitive; Homocystinuria due to methy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs754980119
- ClinGen CA595734
- cosmic curated COSV56738
- ClinVar RCV000690846
- Pathogenic/Likely pathogenic
- not provided; Neural tube defects, folate-sensitive; Homocystinuria due to methy
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.76
- CADD 23.30
- PolyPhen-2 0.32
- SIFT 0.08
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neural tube defects, folate-sensitive; Homocystinu)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the REMAINING population (allele frequency 0.00013)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe… (PMID 7726158)