R141Q (p.Arg141Gln) variant of OTC (P00480)
R141Q (p.Arg141Gln) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
R141Q (p.Arg141Gln) variant details
- p.Arg141Gln
- rs68026851
- ClinGen CA224600
- ClinVar RCV000011734
- ClinVar RCV000083434
- Pathogenic
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency. (PMID 1627356)
- Cited in: Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. (PMID 1757964)