I153M (p.Ile153Met) variant of MTHFR (P42898)
I153M (p.Ile153Met) 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; Thrombophilia due to thromb. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I153M (p.Ile153Met) variant details
- p.Ile153Met
- rs767890671
- ClinGen CA595667
- ClinVar RCV001290317
- ClinVar RCV002499515
- Pathogenic/Likely pathogenic
- not provided; Neural tube defects, folate-sensitive; Thrombophilia due to thromb
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.89
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Neural tube defects, folate-sensitive; Thrombophil)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the South Asian population (allele frequency 0.00084)
- 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)