V17L (p.Val17Leu) variant of TTR (Transthyretin)
V17L (p.Val17Leu) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD 18-31591951-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.21
- MetaLR 0.63
- MetaSVM -0.44
- CADD 6.81
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available