K9E (p.Lys9Glu) variant of ANK2 (Ankyrin-2)
K9E (p.Lys9Glu) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- gnomAD 4-112904512-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.90
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.409
- Literature evidence available