G79E (p.Gly79Glu) variant of OTC (P00480)
G79E (p.Gly79Glu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G79E (p.Gly79Glu) variant details
- p.Gly79Glu
- rs72554331
- ClinGen CA224511
- ClinVar RCV000011753
- ClinVar RCV000083369
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Mutations and polymorphisms in the human ornithine transcarbamylase gene. (PMID 11793468)
- Cited in: Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism. (PMID 1480464)