E27D (p.Glu27Asp) variant of TTR (Transthyretin)
E27D (p.Glu27Asp) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- Ensembl rs201164521
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.21
- MetaLR 0.41
- MetaSVM -0.29
- CADD 3.29
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available