G162R (p.Gly162Arg) variant of OTC (P00480)
G162R (p.Gly162Arg) 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 0.95 / 1. The record also includes published literature and structural context.
G162R (p.Gly162Arg) variant details
- p.Gly162Arg
- rs66626662
- ClinGen CA224636
- ClinVar RCV000011750
- ClinVar RCV000083456
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Site specific screening for point mutations in ornithine transcarbamylase deficiency. (PMID 1353535)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)