N47I (p.Asn47Ile) variant of OTC (P00480)
N47I (p.Asn47Ile) 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 0.67 / 1. The record also includes published literature and structural context.
N47I (p.Asn47Ile) variant details
- p.Asn47Ile
- rs67939655
- ClinGen CA224465
- ClinVar RCV000083341
- ClinVar RCV002513861
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.33
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 0.61
- SIFT 0.00
- EVE 0.30
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PMID 9266388)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)