H168R (p.His168Arg) variant of OTC (P00480)
H168R (p.His168Arg) 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 0.99 / 1. The record also includes published literature and structural context.
H168R (p.His168Arg) variant details
- p.His168Arg
- rs66867430
- ClinGen CA224651
- ClinVar RCV000083465
- ClinVar RCV001854459
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme… (PMID 9266387)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)