A12A (p.Ala12Ala) variant of TTR (Transthyretin)
A12A (p.Ala12Ala) in TTR (Transthyretin) is a synonymous 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.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- gnomAD 18-31591938-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Population evidence available
- Structural context available
- Literature evidence available