Q218E (p.Gln218Glu) variant of MMUT (P22033)
Q218E (p.Gln218Glu) 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 methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Q218E (p.Gln218Glu) variant details
- p.Gln218Glu
- rs764347583
- ClinGen CA364404276
- ClinVar RCV001257409
- ExAC rs764347583
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- MutPred 0.90
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic (in MAMM)
- UniProt: Likely pathogenic (in MAMM)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)