L43I (p.Leu43Ile) variant of OTC (P00480)
L43I (p.Leu43Ile) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- rs72554309
- ClinGen CA327925152
- ClinVar RCV002050843
- ClinVar RCV003331217
- Uncertain significance
- not provided; not specified; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.71
- AlphaMissense 0.18
- MetaLR 0.93
- MetaSVM 0.98
- CADD 22.80
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (not provided; not specified; Ornithine carbamoyltransferase defi)
- EBI: Pathogenic (in dbSNP:rs72554309)
- UniProt: Pathogenic (in dbSNP:rs72554309)
- Most common in the African/African-American population (allele frequency 0.00033)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)