p.His4dup variant of TTR (Transthyretin)
p.His4dup in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
p.His4dup variant details
- rs747545126
- gnomAD 18-31591910-C-CTC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 17.30
- Population evidence available
- Structural context available
- Literature evidence available