E27* (p.Glu27Ter) variant of HNF4A (P41235)
E27* (p.Glu27Ter) in HNF4A (P41235) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- gnomAD 20-44355841-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available