N4K (p.Asn4Lys) variant of OTC (P00480)
N4K (p.Asn4Lys) in OTC (P00480) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The record also includes variant effect predictions and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- ExAC rs751669439
- gnomAD rs751669439
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- MetaLR 0.82
- MetaSVM 0.45
- SIFT 0.10
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- UniProt: Uncertain significance
- Structural context available