N4D (p.Asn4Asp) variant of OTC (P00480)
N4D (p.Asn4Asp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N4D (p.Asn4Asp) variant details
- p.Asn4Asp
- rs1051365488
- ClinGen CA412712862
- ClinVar RCV003018428
- TOPMed rs1051365488
- Conflicting interpretations
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.36
- MetaLR 0.84
- MetaSVM 0.64
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)