R68* (p.Arg68Ter) variant of MTHFR (P42898)
R68* (p.Arg68Ter) in MTHFR (P42898) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R68* (p.Arg68Ter) variant details
- p.Arg68Ter
- rs763539350
- ClinGen CA595726
- ClinVar RCV001380126
- ClinVar RCV002305606
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 38.00
- EBI: Pathogenic (in dbSNP:rs2066472)
- UniProt: Pathogenic (in dbSNP:rs2066472)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)