L5L (p.Leu5Leu) variant of OTC (P00480)
L5L (p.Leu5Leu) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- rs755245595
- gnomAD X-38352711-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 7.84
- Population evidence available
- Structural context available
- Literature evidence available