R330G (p.Arg330Gly) variant of OTC (P00480)
R330G (p.Arg330Gly) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R330G (p.Arg330Gly) variant details
- p.Arg330Gly
- rs72558478
- ClinGen CA224864
- ClinVar RCV000083625
- ClinVar RCV001857406
- Pathogenic/Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (not provided; 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)