L74L (p.Leu74Leu) variant of OTC (P00480)
L74L (p.Leu74Leu) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L74L (p.Leu74Leu) variant details
- p.Leu74Leu
- gnomAD X-38369799-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 10.60
- Population evidence available
- Structural context available
- Literature evidence available