A57V (p.Ala57Val) variant of TTR (Transthyretin)
A57V (p.Ala57Val) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- gnomAD 18-31592996-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.44
- MetaLR 0.85
- MetaSVM 0.87
- CADD 23.80
- PolyPhen-2 0.64
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available