N43H (p.Asn43His) variant of ANK2 (Ankyrin-2)
N43H (p.Asn43His) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N43H (p.Asn43His) variant details
- p.Asn43His
- gnomAD 4-113151113-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 13.90
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.508
- Literature evidence available