R54R (p.Arg54Arg) variant of TTR (Transthyretin)
R54R (p.Arg54Arg) in TTR (Transthyretin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- gnomAD 18-31592986-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 9.70
- Population evidence available
- Structural context available
- Literature evidence available