Q8K (p.Gln8Lys) variant of ANK2 (Ankyrin-2)
Q8K (p.Gln8Lys) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD 4-112904509-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 15.90
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.407
- Literature evidence available