R141P (p.Arg141Pro) variant of OTC (P00480)
R141P (p.Arg141Pro) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R141P (p.Arg141Pro) variant details
- p.Arg141Pro
- rs68026851
- ClinGen CA224601
- ClinVar RCV000083435
- ClinVar RCV000990786
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 1.00
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PMID 9266388)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)