L45V (p.Leu45Val) variant of OTC (P00480)
L45V (p.Leu45Val) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs72554311
- ClinGen CA224460
- ClinVar RCV000083337
- ClinVar RCV006461450
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.32
- MetaLR 0.92
- MetaSVM 0.92
- PolyPhen-2 0.97
- SIFT 0.05
- EVE 0.43
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PMID 1671317)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)