R23R (p.Arg23Arg) variant of OTC (P00480)
R23R (p.Arg23Arg) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R23R (p.Arg23Arg) variant details
- p.Arg23Arg
- gnomAD X-38352763-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 9.76
- Population evidence available
- Structural context available
- Literature evidence available