E27K (p.Glu27Lys) variant of TTR (Transthyretin)
E27K (p.Glu27Lys) in TTR (Transthyretin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD 18-31592905-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.19
- MetaLR 0.77
- MetaSVM -0.06
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available