A6A (p.Ala6Ala) variant of ANK2 (Ankyrin-2)
A6A (p.Ala6Ala) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- gnomAD 4-113145883-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.485
- Literature evidence available