V17M (p.Val17Met) variant of TTR (Transthyretin)
V17M (p.Val17Met) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V17M (p.Val17Met) variant details
- p.Val17Met
- gnomAD 18-31591951-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.29
- MetaLR 0.82
- MetaSVM 0.22
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available