K210E (p.Lys210Glu) variant of OTC (P00480)
K210E (p.Lys210Glu) 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 0.72 / 1. The record also includes published literature and structural context.
K210E (p.Lys210Glu) variant details
- p.Lys210Glu
- rs72558418
- ClinGen CA412725769
- ClinVar RCV002510348
- ClinVar RCV004798004
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.36
- MetaLR 0.94
- MetaSVM 1.03
- PolyPhen-2 0.90
- SIFT 0.02
- EVE 0.35
- 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)