N11S (p.Asn11Ser) variant of OTC (P00480)
N11S (p.Asn11Ser) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs2519941902
- ClinGen CA412713053
- ClinVar RCV003070460
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.29
- MetaLR 0.79
- MetaSVM 0.13
- CADD 5.83
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)