R79S (p.Arg79Ser) variant of MTHFR (P42898)
R79S (p.Arg79Ser) 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 0.62 / 1. The record also includes population frequency data and structural context.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- rs1553187509
- ClinGen CA338422769
- ClinVar RCV000625779
- Ensembl rs1553187509
- Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.73
- CADD 29.10
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available