E276D (p.Glu276Asp) variant of MMUT (P22033)
E276D (p.Glu276Asp) 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 methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E276D (p.Glu276Asp) variant details
- p.Glu276Asp
- rs12175488
- ClinGen CA10575876
- ClinVar RCV000236687
- UniProt VAR 077219
- Pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.92
- CADD 21.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel… (PMID 27167370)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)