N4H (p.Asn4His) variant of OTC (P00480)
N4H (p.Asn4His) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 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 and structural context.
N4H (p.Asn4His) variant details
- p.Asn4His
- TOPMed rs1051365488
- gnomAD rs1051365488
- Uncertain significance
- Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.37
- MetaLR 0.83
- MetaSVM 0.58
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; Ornithine carbamoyltransferase deficien)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available