H18N (p.His18Asn) variant of OTC (P00480)
H18N (p.His18Asn) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H18N (p.His18Asn) variant details
- p.His18Asn
- rs2519941947
- ClinGen CA412713192
- ClinVar RCV003131861
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.19
- MetaLR 0.81
- MetaSVM 0.34
- CADD 4.12
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)