R66K (p.Arg66Lys) variant of OTC (P00480)
R66K (p.Arg66Lys) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ornithine carbamoyltransferase deficiency. The record also includes published literature and structural context.
R66K (p.Arg66Lys) variant details
- p.Arg66Lys
- rs2519950770
- ClinGen CA412716412
- ClinVar RCV003230133
- ClinVar RCV004808463
- Uncertain significance
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- ClinVar: Uncertain significance (not provided; 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)