R357H (p.Arg357His) variant of MTHFR (P42898)
R357H (p.Arg357His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R357H (p.Arg357His) variant details
- p.Arg357His
- rs977038830
- ClinGen CA18001313
- NCI-TCGA Cosmic COSV6487
- cosmic curated COSV64877
- Pathogenic/Likely pathogenic
- Neural tube defects, folate-sensitive; not provided; Homocystinuria due to methy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 28.40
- PolyPhen-2 0.53
- 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 Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity. (PMID 40440437)