I298N (p.Ile298Asn) variant of MMUT (P22033)
I298N (p.Ile298Asn) 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 record also includes published literature and structural context.
I298N (p.Ile298Asn) variant details
- p.Ile298Asn
- rs1767678885
- ClinGen CA364401894
- ClinVar RCV001257410
- Ensembl rs1767678885
- Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)