L42H (p.Leu42His) variant of OTC (P00480)
L42H (p.Leu42His) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The record also includes published literature and structural context.
L42H (p.Leu42His) variant details
- p.Leu42His
- rs2519950616
- ClinGen CA2580100825
- ClinVar RCV002300197
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)