Q8Q (p.Gln8Gln) variant of ANK2 (Ankyrin-2)
Q8Q (p.Gln8Gln) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q8Q (p.Gln8Gln) variant details
- p.Gln8Gln
- gnomAD 4-112904511-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 9.09
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.407
- Literature evidence available