R377H (p.Arg377His) variant of MTHFR (P42898)
R377H (p.Arg377His) 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; not provided; Homocystinuria due to methy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R377H (p.Arg377His) variant details
- p.Arg377His
- rs750323424
- ClinGen CA595443
- cosmic curated COSV64876
- ClinVar RCV000810485
- Pathogenic/Likely pathogenic
- Neural tube defects, folate-sensitive; not provided; Homocystinuria due to methy
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- CADD 29.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neural tube defects, folate-sensitive; not provided; Homocystinu)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Non-Finnish European population (allele frequency 7.3e-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)