V40P (p.Val40Pro) variant of TTR (Transthyretin)
V40P (p.Val40Pro) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V40P (p.Val40Pro) variant details
- p.Val40Pro
- rs747925781
- gnomAD 18-31592943-T-TCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 25.90
- Population evidence available
- Structural context available
- Literature evidence available