Q8* (p.Gln8Ter) variant of ANK2 (Ankyrin-2)
Q8* (p.Gln8Ter) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- gnomAD 4-112904509-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.407
- Literature evidence available