W59* (p.Trp59Ter) variant of MTHFR (P42898)
W59* (p.Trp59Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W59* (p.Trp59Ter) variant details
- p.Trp59Ter
- rs767789270
- ClinGen CA338423012
- ClinVar RCV001939988
- ExAC rs767789270
- Pathogenic
- in MTHFRD
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 39.00
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)