W58* (p.Trp58Ter) variant of OTC (P00480)
W58* (p.Trp58Ter) in OTC (P00480) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
W58* (p.Trp58Ter) variant details
- p.Trp58Ter
- rs72554322
- ClinGen CA224490
- NCI-TCGA Cosmic COSV9923
- ClinVar RCV000083356
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)