L31L (p.Leu31Leu) variant of OTC (P00480)
L31L (p.Leu31Leu) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs2068301228
- gnomAD X-38367306-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.60
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available