W61C (p.Trp61Cys) variant of MMUT (P22033)
W61C (p.Trp61Cys) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. The record also includes published literature and structural context.
W61C (p.Trp61Cys) variant details
- p.Trp61Cys
- rs748832610
- ClinGen CA364405467
- ClinVar RCV003991897
- Uncertain significance
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Missense
- ClinVar: Uncertain significance (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)