E122G (p.Glu122Gly) variant of OTC (P00480)
E122G (p.Glu122Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E122G (p.Glu122Gly) variant details
- p.Glu122Gly
- rs1131691517
- ClinGen CA412718508
- ClinVar RCV000494134
- ClinVar RCV002527083
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)