E239D (p.Glu239Asp) variant of OTC (P00480)
E239D (p.Glu239Asp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
E239D (p.Glu239Asp) variant details
- p.Glu239Asp
- rs66851495
- ClinGen CA412721916
- ClinVar RCV003447661
- ClinGen CA224759
- Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.14
- MetaLR 0.93
- MetaSVM 0.96
- PolyPhen-2 0.18
- SIFT 0.08
- MutPred 0.84
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)