I200T (p.Ile200Thr) variant of MMUT (P22033)
I200T (p.Ile200Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic acidemia; not provided. The record also includes published literature and structural context.
I200T (p.Ile200Thr) variant details
- p.Ile200Thr
- rs2481347095
- ClinGen CA364404381
- ClinVar RCV003555280
- ClinVar RCV005240826
- Pathogenic
- Methylmalonic acidemia; not provided
- Missense
- ClinVar: Pathogenic (Methylmalonic acidemia; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)