L43P (p.Leu43Pro) variant of OTC (P00480)
L43P (p.Leu43Pro) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- rs2068301622
- ClinGen CA412715997
- ClinVar RCV001201344
- Ensembl rs2068301622
- Pathogenic
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.02
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ornithine carbamoyltransferase deficiency)
- EBI: Pathogenic (in dbSNP:rs72554309)
- UniProt: Pathogenic (in dbSNP:rs72554309)
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Ornithine Transcarbamylase Deficiency. (PMID 24006547)