D45N (p.Asp45Asn) variant of ANK2 (Ankyrin-2)
D45N (p.Asp45Asn) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs531912509
- gnomAD 4-113145980-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 20.20
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- ANK2 Death domain domainome 1.0: score 0.101
- Literature evidence available