A56A (p.Ala56Ala) variant of TTR (Transthyretin)
A56A (p.Ala56Ala) in TTR (Transthyretin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- rs2073494109
- gnomAD 18-31592994-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 9.10
- Population evidence available
- Structural context available
- Literature evidence available