G87E (p.Gly87Glu) variant of MMUT (P22033)
G87E (p.Gly87Glu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G87E (p.Gly87Glu) variant details
- p.Gly87Glu
- rs1554160986
- ClinGen CA364405151
- ClinVar RCV000674559
- UniProt VAR 026593
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- MutPred 0.92
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)