R54E (p.Arg54Glu) variant of TTR (Transthyretin)
R54E (p.Arg54Glu) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R54E (p.Arg54Glu) variant details
- p.Arg54Glu
- gnomAD 18-31592985-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available