L45R (p.Leu45Arg) variant of OTC (P00480)
L45R (p.Leu45Arg) 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 0.91 / 1. The record also includes published literature and structural context.
L45R (p.Leu45Arg) variant details
- p.Leu45Arg
- rs72554312
- ClinGen CA412716024
- ClinVar RCV003040285
- Likely pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Likely pathogenic (in OTCD)
- UniProt: Likely pathogenic (in OTCD)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)