R345C (p.Arg345Cys) variant of MTHFR (P42898)
R345C (p.Arg345Cys) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.86 / 1. The record also includes population frequency data and structural context.
R345C (p.Arg345Cys) variant details
- p.Arg345Cys
- rs759031330
- ClinGen CA595462
- cosmic curated COSV64878
- ClinVar RCV000416797
- Pathogenic/Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.89
- CADD 33.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available