K80E (p.Lys80Glu) variant of OTC (P00480)
K80E (p.Lys80Glu) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
K80E (p.Lys80Glu) variant details
- p.Lys80Glu
- rs72554332
- ClinGen CA221089
- ClinVar RCV000079083
- ClinVar RCV003333024
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.65
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 0.47
- SIFT 0.03
- EVE 0.40
- ClinVar: Pathogenic (not provided; 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)