E27G (p.Glu27Gly) variant of TTR (Transthyretin)
E27G (p.Glu27Gly) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- gnomAD 18-31592906-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.14
- MetaLR 0.64
- MetaSVM -0.25
- CADD 8.65
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available