R40* (p.Arg40Ter) variant of ANK2 (Ankyrin-2)
R40* (p.Arg40Ter) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- gnomAD 4-113117407-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 17.10
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0652
- Literature evidence available