R92Q (p.Arg92Gln) variant of OTC (P00480)
R92Q (p.Arg92Gln) 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 0.97 / 1. The record also includes published literature and structural context.
R92Q (p.Arg92Gln) variant details
- p.Arg92Gln
- rs66550389
- ClinGen CA285805
- NCI-TCGA Cosmic COSV5000
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- 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: Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PMID 1671317)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)