Q147P (p.Gln147Pro) variant of MTHFR (P42898)
Q147P (p.Gln147Pro) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neural tube defects, folate-sensitive. The record also includes published literature and structural context.
Q147P (p.Gln147Pro) variant details
- p.Gln147Pro
- rs786204013
- ClinGen CA198583
- ClinVar RCV000167595
- ClinVar RCV004567354
- Likely pathogenic
- Neural tube defects, folate-sensitive
- Missense
- ClinVar: Likely pathogenic (Neural tube defects, folate-sensitive)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- 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)