A6D (p.Ala6Asp) variant of ANK2 (Ankyrin-2)
A6D (p.Ala6Asp) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- rs2154369290
- gnomAD 4-113117303-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 18.10
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.485
- Literature evidence available