L36* (p.Leu36Ter) variant of ANK2 (Ankyrin-2)
L36* (p.Leu36Ter) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L36* (p.Leu36Ter) variant details
- p.Leu36Ter
- rs1235765606
- gnomAD 4-113145939-AACTG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 18.60
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.221
- Literature evidence available