I160F (p.Ile160Phe) variant of OTC (P00480)
I160F (p.Ile160Phe) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
I160F (p.Ile160Phe) variant details
- p.Ile160Phe
- rs2147341364
- ClinGen CA412723564
- ClinVar RCV002030590
- Ensembl rs2147341364
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.65
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.43
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)