Y55D (p.Tyr55Asp) variant of OTC (P00480)
Y55D (p.Tyr55Asp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Y55D (p.Tyr55Asp) variant details
- p.Tyr55Asp
- rs72554319
- ClinGen CA224486
- ClinVar RCV000083353
- UniProt VAR 004854
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.23
- MetaLR 0.84
- MetaSVM 0.73
- PolyPhen-2 0.92
- SIFT 0.49
- EVE 0.12
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male. (PMID 9452065)
- Cited in: Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (PMID 10070622)