V40S (p.Val40Ser) variant of TTR (Transthyretin)
V40S (p.Val40Ser) in TTR (Transthyretin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V40S (p.Val40Ser) variant details
- p.Val40Ser
- gnomAD 18-31592942-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 0.05
- Population evidence available
- Structural context available
- Literature evidence available