L9V (p.Leu9Val) variant of OTC (P00480)
L9V (p.Leu9Val) 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 0.39 / 1. The record also includes population frequency data and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- gnomAD rs1440140895
- Uncertain significance
- Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.51
- MetaLR 0.82
- MetaSVM 0.27
- CADD 5.83
- SIFT 0.32
- ClinVar: Uncertain significance (Ornithine carbamoyltransferase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available