R66R (p.Arg66Arg) variant of OTC (P00480)
R66R (p.Arg66Arg) in OTC (P00480) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R66R (p.Arg66Arg) variant details
- p.Arg66Arg
- rs369756595
- gnomAD X-38367409-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 11.90
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available
- Literature evidence available