N161S (p.Asn161Ser) variant of OTC (P00480)
N161S (p.Asn161Ser) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
N161S (p.Asn161Ser) variant details
- p.Asn161Ser
- rs72556271
- ClinGen CA224635
- ClinVar RCV000083455
- ClinVar RCV000793302
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.15
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.17
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum. (PMID 7627182)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)