L43L (p.Leu43Leu) variant of OTC (P00480)
L43L (p.Leu43Leu) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- gnomAD X-38367342-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.52
- Population evidence available
- Structural context available
- Literature evidence available