W421C (p.Trp421Cys) variant of MTHFR (P42898)
W421C (p.Trp421Cys) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W421C (p.Trp421Cys) variant details
- p.Trp421Cys
- rs200688214
- 1000Genomes rs200688214
- ExAC rs200688214
- TOPMed rs200688214
- Likely pathogenic
- not provided; Homocystinuria due to methylene tetrahydrofolate reductase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Homocystinuria due to methylene tetrahydrofolate r)
- EBI: Likely pathogenic (in MTHFRD)
- UniProt: Likely pathogenic (in MTHFRD)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)