G28E (p.Gly28Glu) variant of OTC (P00480)
G28E (p.Gly28Glu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- rs199858968
- ClinGen CA10385785
- ClinVar RCV001057159
- ESP rs199858968
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.71
- MetaLR 0.93
- MetaSVM 1.11
- CADD 25.10
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)