R183Q (p.Arg183Gln) variant of MTHFR (P42898)
R183Q (p.Arg183Gln) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia due to thrombin defect; not provided; Homocystinuria due to methyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R183Q (p.Arg183Gln) variant details
- p.Arg183Gln
- rs574132670
- ClinGen CA198586
- NCI-TCGA Cosmic COSV6470
- Pathogenic/Likely pathogenic
- Thrombophilia due to thrombin defect; not provided; Homocystinuria due to methyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia due to thrombin defect; not provided; Homocystinur)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)