H18Q (p.His18Gln) variant of OTC (P00480)
H18Q (p.His18Gln) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H18Q (p.His18Gln) variant details
- p.His18Gln
- rs2147315516
- ClinGen CA412713205
- ClinVar RCV002006250
- Ensembl rs2147315516
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.25
- MetaLR 0.83
- MetaSVM 0.29
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)