K28R (p.Lys28Arg) variant of ANK2 (Ankyrin-2)
K28R (p.Lys28Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- rs1208770308
- gnomAD 4-113117372-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 19.70
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.225
- Literature evidence available