E52* (p.Glu52Ter) variant of OTC (P00480)
E52* (p.Glu52Ter) 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 0.85 / 1. The record also includes published literature and structural context.
E52* (p.Glu52Ter) variant details
- p.Glu52Ter
- rs66521141
- ClinGen CA224476
- NCI-TCGA Cosmic COSV9923
- ClinVar RCV000083348
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.85
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)