R26W (p.Arg26Trp) variant of OTC (P00480)
R26W (p.Arg26Trp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs1057515879
- ClinGen CA10653910
- NCI-TCGA Cosmic COSV5000
- ClinVar RCV000363211
- Uncertain significance
- not provided; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.37
- MetaLR 0.83
- MetaSVM 0.41
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Variant of uncertain significance (in OTCD)
- UniProt: Uncertain significance (in OTCD)
- Most common in the HGDP:MOZABITE population (allele frequency 0.031)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)