K28K (p.Lys28Lys) variant of ANK2 (Ankyrin-2)
K28K (p.Lys28Lys) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28K (p.Lys28Lys) variant details
- p.Lys28Lys
- rs139765650
- gnomAD 4-113049812-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 26.10
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.225
- Literature evidence available