R26R (p.Arg26Arg) variant of OTC (P00480)
R26R (p.Arg26Arg) in OTC (P00480) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R26R (p.Arg26Arg) variant details
- p.Arg26Arg
- gnomAD X-38352772-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.36
- Population evidence available
- Structural context available
- Literature evidence available