R694W (p.Arg694Trp) variant of MMUT (P22033)
R694W (p.Arg694Trp) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R694W (p.Arg694Trp) variant details
- p.Arg694Trp
- rs777758903
- ClinGen CA347907
- ClinVar RCV000203399
- ClinVar RCV000589534
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.92
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Population evidence available
- Structural context available
- Cited in: Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms… (PMID 15643616)
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)