E4* (p.Glu4Ter) variant of ANK2 (Ankyrin-2)
E4* (p.Glu4Ter) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- gnomAD 4-113049738-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 37.00
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0751
- Literature evidence available