A7A (p.Ala7Ala) variant of ANK2 (Ankyrin-2)
A7A (p.Ala7Ala) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs920309443
- gnomAD 4-113145904-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0659
- CADD 3.29
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0525
- Literature evidence available