Q69Q (p.Gln69Gln) variant of OTC (P00480)
Q69Q (p.Gln69Gln) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q69Q (p.Gln69Gln) variant details
- p.Gln69Gln
- gnomAD X-38367420-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 6.61
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available