R68G (p.Arg68Gly) variant of MTHFR (P42898)
R68G (p.Arg68Gly) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Schizophrenia; Thrombophilia due to thrombin defect; Homocystinuria due to methy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R68G (p.Arg68Gly) variant details
- p.Arg68Gly
- rs763539350
- ClinGen CA198565
- ClinVar RCV000167589
- ClinVar RCV003462246
- Pathogenic/Likely pathogenic
- Schizophrenia; Thrombophilia due to thrombin defect; Homocystinuria due to methy
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.88
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Schizophrenia; Thrombophilia due to thrombin defect; Homocystinu)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)