W421S (p.Trp421Ser) variant of MTHFR (P42898)
W421S (p.Trp421Ser) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W421S (p.Trp421Ser) variant details
- p.Trp421Ser
- rs200137991
- ClinGen CA198630
- ClinVar RCV000167612
- ClinVar RCV001268212
- Pathogenic/Likely pathogenic
- not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.82
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Homocystinuria due to methylene tetrahydrofolate r)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)