A191E (p.Ala191Glu) variant of MMUT (P22033)
A191E (p.Ala191Glu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A191E (p.Ala191Glu) variant details
- p.Ala191Glu
- rs760782399
- ClinGen CA312777
- ClinVar RCV000186054
- ClinVar RCV000203406
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- CADD 26.80
- 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)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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: Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID 15781192)