L63P (p.Leu63Pro) variant of OTC (P00480)
L63P (p.Leu63Pro) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
L63P (p.Leu63Pro) variant details
- p.Leu63Pro
- rs72554324
- ClinGen CA224493
- ClinVar RCV000083358
- ClinVar RCV001854455
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.67
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in OTCD)
- UniProt: Pathogenic (in OTCD)
- Structural context available
- Cited in: Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous… (PMID 9143919)
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)