R26Q (p.Arg26Gln) variant of OTC (P00480)
R26Q (p.Arg26Gln) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; 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.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs68031618
- ClinGen CA255647
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000011740
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.56
- AlphaMissense 0.15
- MetaLR 0.84
- MetaSVM 0.64
- CADD 23.70
- PolyPhen-2 0.12
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Ornithine carbamoyltransferase deficien)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. (PMID 2474822)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)