K9N (p.Lys9Asn) variant of ANK2 (Ankyrin-2)
K9N (p.Lys9Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K9N (p.Lys9Asn) variant details
- p.Lys9Asn
- gnomAD 4-112904514-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 34.00
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.409
- Literature evidence available