G195R (p.Gly195Arg) variant of OTC (P00480)
G195R (p.Gly195Arg) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G195R (p.Gly195Arg) variant details
- p.Gly195Arg
- rs67294955
- ClinGen CA285807
- ClinVar RCV000083497
- ClinVar RCV001232865
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.95
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Seven new mutations in the human ornithine transcarbamylase gene. (PMID 7951259)
- Cited in: Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes. (PMID 8112735)