G28G (p.Gly28Gly) variant of OTC (P00480)
G28G (p.Gly28Gly) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G28G (p.Gly28Gly) variant details
- p.Gly28Gly
- gnomAD X-38367297-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.76
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available