E19D (p.Glu19Asp) variant of TTR (Transthyretin)
E19D (p.Glu19Asp) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD 18-31591959-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.34
- MetaLR 0.77
- MetaSVM 0.29
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available