I159M (p.Ile159Met) variant of OTC (P00480)
I159M (p.Ile159Met) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I159M (p.Ile159Met) variant details
- p.Ile159Met
- rs755503394
- ClinGen CA10385875
- ClinVar RCV003455845
- ExAC rs755503394
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.70
- MetaLR 0.96
- MetaSVM 0.97
- CADD 18.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0001)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)