K27* (p.Lys27Ter) variant of ANK2 (Ankyrin-2)
K27* (p.Lys27Ter) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K27* (p.Lys27Ter) variant details
- p.Lys27Ter
- gnomAD 4-113049807-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.236
- Literature evidence available