L45P (p.Leu45Pro) variant of OTC (P00480)
L45P (p.Leu45Pro) 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 0.91 / 1. The record also includes published literature and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- rs72554312
- ClinGen CA224461
- ClinVar RCV000011739
- ClinVar RCV000083338
- Pathogenic
- not provided; 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: Pathogenic (not provided; Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. (PMID 2474822)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)