L57L (p.Leu57Leu) variant of OTC (P00480)
L57L (p.Leu57Leu) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L57L (p.Leu57Leu) variant details
- p.Leu57Leu
- rs924740805
- gnomAD X-38367384-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0974
- CADD 2.37
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available