A141E (p.Ala141Glu) variant of MMUT (P22033)
A141E (p.Ala141Glu) 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; not. 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.
A141E (p.Ala141Glu) variant details
- p.Ala141Glu
- rs565348836
- ClinGen CA3847113
- ClinVar RCV001257407
- ClinVar RCV003558770
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.96
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)