D263G (p.Asp263Gly) variant of OTC (P00480)
D263G (p.Asp263Gly) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of OTC-related disorder; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D263G (p.Asp263Gly) variant details
- p.Asp263Gly
- rs72558443
- ClinGen CA224788
- ClinVar RCV000083572
- ClinVar RCV003398689
- Likely pathogenic
- OTC-related disorder; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.95
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (OTC-related disorder; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. (PMID 10946359)
- Cited in: Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G. (PMID 10070622)