S60* (p.Ser60Ter) variant of OTC (P00480)
S60* (p.Ser60Ter) in OTC (P00480) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in OTCD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
S60* (p.Ser60Ter) variant details
- p.Ser60Ter
- rs72554323
- ClinGen CA412716336
- ClinVar RCV002309665
- ClinGen CA412716338
- Pathogenic
- in OTCD
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- 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)