E14E (p.Glu14Glu) variant of ANK2 (Ankyrin-2)
E14E (p.Glu14Glu) in ANK2 (Ankyrin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD 4-113049770-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 13.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- Literature evidence available