R23Q (p.Arg23Gln) variant of OTC (P00480)
R23Q (p.Arg23Gln) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs148660170
- ClinGen CA327916977
- ClinVar RCV002113113
- ClinVar RCV004046276
- Conflicting interpretations
- Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.50
- MetaLR 0.83
- MetaSVM 0.63
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Ornithine carbamoyltransferase deficien)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)