Y183C (p.Tyr183Cys) variant of OTC (P00480)
Y183C (p.Tyr183Cys) 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 0.68 / 1. The record also includes published literature and structural context.
Y183C (p.Tyr183Cys) variant details
- p.Tyr183Cys
- rs72556293
- ClinGen CA224679
- ClinVar RCV000083488
- ClinVar RCV001854460
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.23
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.21
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Mutations and polymorphisms in the human ornithine transcarbamylase gene. (PMID 8364586)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)