E72K (p.Glu72Lys) variant of OTC (P00480)
E72K (p.Glu72Lys) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- rs2068302412
- ClinGen CA412716495
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV001089868
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.23
- MetaLR 0.76
- MetaSVM 0.52
- PolyPhen-2 0.73
- SIFT 0.26
- EVE 0.22
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)