H4del (p.His4del) variant of TTR (Transthyretin)
H4del (p.His4del) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H4del (p.His4del) variant details
- rs747545126
- gnomAD 18-31591910-CTCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available