V34I (p.Val34Ile) variant of TTR (Transthyretin)
V34I (p.Val34Ile) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- gnomAD 18-31592926-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.70
- MetaLR 0.94
- MetaSVM 1.09
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available