R26L (p.Arg26Leu) variant of OTC (P00480)
R26L (p.Arg26Leu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- rs68031618
- ClinGen CA412713310
- ClinVar RCV002249117
- 1000Genomes rs68031618
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.15
- MetaLR 0.84
- MetaSVM 0.64
- PolyPhen-2 0.12
- SIFT 0.12
- MutPred 0.86
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)