R157W (p.Arg157Trp) variant of MTHFR (P42898)
R157W (p.Arg157Trp) 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 0.67 / 1. The record also includes population frequency data and structural context.
R157W (p.Arg157Trp) variant details
- p.Arg157Trp
- rs776195746
- ClinGen CA595662
- cosmic curated COSV56743
- ClinVar RCV001980512
- Conflicting interpretations
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.91
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely benign (in MTHFRD)
- UniProt: Likely benign (in MTHFRD)
- Population evidence available
- Structural context available