R277W (p.Arg277Trp) variant of OTC (P00480)
R277W (p.Arg277Trp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R277W (p.Arg277Trp) variant details
- p.Arg277Trp
- rs72558454
- ClinGen CA255648
- ClinVar RCV000011746
- ClinVar RCV000083586
- Pathogenic
- Inborn genetic diseases; not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Ornithine carbamoyltransf)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset… (PMID 2347583)
- Cited in: Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent… (PMID 9065786)