G50R (p.Gly50Arg) variant of OTC (P00480)
G50R (p.Gly50Arg) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs67486158
- ClinGen CA224471
- ClinVar RCV000083345
- ClinVar RCV001027709
- Likely benign
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.60
- AlphaMissense 0.21
- MetaLR 0.73
- MetaSVM 0.61
- CADD 22.30
- PolyPhen-2 0.96
- ClinVar: Likely benign (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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)