L59L (p.Leu59Leu) variant of OTC (P00480)
L59L (p.Leu59Leu) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L59L (p.Leu59Leu) variant details
- p.Leu59Leu
- rs1569273170
- gnomAD X-38367390-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 8.79
- Population evidence available
- Structural context available
- Literature evidence available