R157Q (p.Arg157Gln) variant of MTHFR (P42898)
R157Q (p.Arg157Gln) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia due to thrombin defect; Neural tube defects, folate-sensitive; Hom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R157Q (p.Arg157Gln) variant details
- p.Arg157Gln
- rs121434295
- ClinGen CA278053
- ClinVar RCV001382824
- ClinVar RCV002476918
- Pathogenic/Likely pathogenic
- Thrombophilia due to thrombin defect; Neural tube defects, folate-sensitive; Hom
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.96
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to thrombin defect; Neural tube defects, folat)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Population evidence available
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. (PMID 7920641)