R52* (p.Arg52Ter) variant of MTHFR (P42898)
R52* (p.Arg52Ter) in MTHFR (P42898) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MTHFRD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R52* (p.Arg52Ter) variant details
- p.Arg52Ter
- rs986604359
- ClinGen CA17975257
- NCI-TCGA Cosmic COSV5673
- cosmic curated COSV56739
- Pathogenic
- in MTHFRD
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 36.00
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)