M338T (p.Met338Thr) variant of MTHFR (P42898)
M338T (p.Met338Thr) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M338T (p.Met338Thr) variant details
- p.Met338Thr
- rs368321176
- ClinGen CA595487
- ClinVar RCV000813708
- ClinVar RCV003461217
- Pathogenic/Likely pathogenic
- Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydr
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.69
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neural tube defects, folate-sensitive; Homocystinuria due to met)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)