N324S (p.Asn324Ser) variant of MTHFR (P42898)
N324S (p.Asn324Ser) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
N324S (p.Asn324Ser) variant details
- p.Asn324Ser
- rs267606887
- ClinGen CA278055
- ClinVar RCV002225067
- UniProt VAR 009532
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.91
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive… (PMID 12673793)
- Cited in: Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. (PMID 3347350)