R6R (p.Arg6Arg) variant of OTC (P00480)
R6R (p.Arg6Arg) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- gnomAD X-38352714-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available