G50G (p.Gly50Gly) variant of OTC (P00480)
G50G (p.Gly50Gly) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G50G (p.Gly50Gly) variant details
- p.Gly50Gly
- gnomAD X-38367363-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 12.10
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available