G197R (p.Gly197Arg) variant of OTC (P00480)
G197R (p.Gly197Arg) 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 0.91 / 1. The record also includes published literature and structural context.
G197R (p.Gly197Arg) variant details
- p.Gly197Arg
- rs72556301
- ClinGen CA224695
- ClinVar RCV000083502
- ClinVar RCV001857404
- Pathogenic/Likely pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for… (PMID 10502831)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)