R277Q (p.Arg277Gln) variant of OTC (P00480)
R277Q (p.Arg277Gln) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R277Q (p.Arg277Gln) variant details
- p.Arg277Gln
- rs66724222
- ClinGen CA224808
- ClinVar RCV000083587
- ClinVar RCV000507904
- Pathogenic
- not specified; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.96
- AlphaMissense 0.87
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not specified; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Population evidence available
- Structural context available
- Cited in: Seven new mutations in the human ornithine transcarbamylase gene. (PMID 7951259)
- Cited in: A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated… (PMID 8081373)