R51P (p.Arg51Pro) variant of MTHFR (P42898)
R51P (p.Arg51Pro) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. 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.
R51P (p.Arg51Pro) variant details
- p.Arg51Pro
- rs201618781
- UniProt VAR 009530
- 1000Genomes rs201618781
- ESP rs201618781
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.83
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five… (PMID 8940272)
- Cited in: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with… (PMID 10679944)