T23T (p.Thr23Thr) variant of TTR (Transthyretin)
T23T (p.Thr23Thr) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T23T (p.Thr23Thr) variant details
- p.Thr23Thr
- rs752579437
- gnomAD 18-31591971-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available