N189I (p.Asn189Ile) variant of MMUT (P22033)
N189I (p.Asn189Ile) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
N189I (p.Asn189Ile) variant details
- p.Asn189Ile
- rs200908035
- ClinGen CA3847091
- ClinVar RCV000236505
- ClinVar RCV001853320
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.94
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic aciduria due to methylmalonyl-CoA mu)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)