W59C (p.Trp59Cys) variant of MTHFR (P42898)
W59C (p.Trp59Cys) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
W59C (p.Trp59Cys) variant details
- p.Trp59Cys
- rs767789270
- ExAC rs767789270
- gnomAD rs767789270
- ClinGen CA595729
- Conflicting interpretations
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)