T227M (p.Thr227Met) variant of MTHFR (P42898)
T227M (p.Thr227Met) 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; Neural tube defects, folate-sensitive; Homocystinuria due to methy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T227M (p.Thr227Met) variant details
- p.Thr227Met
- rs748571395
- ClinGen CA595578
- ClinVar RCV000985005
- ClinVar RCV003461295
- Pathogenic/Likely pathogenic
- not provided; Neural tube defects, folate-sensitive; Homocystinuria due to methy
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.96
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neural tube defects, folate-sensitive; Homocystinu)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe… (PMID 7726158)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)