G50* (p.Gly50Ter) variant of OTC (P00480)
G50* (p.Gly50Ter) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G50* (p.Gly50Ter) variant details
- p.Gly50Ter
- rs67486158
- ClinGen CA224472
- ClinVar RCV000011749
- ClinVar RCV000083346
- Pathogenic
- in OTCD
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.21
- MetaLR 0.73
- MetaSVM 0.61
- PolyPhen-2 0.96
- SIFT 0.24
- EVE 0.09
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Site specific screening for point mutations in ornithine transcarbamylase deficiency. (PMID 1353535)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)