E14A (p.Glu14Ala) variant of ANK2 (Ankyrin-2)
E14A (p.Glu14Ala) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14A (p.Glu14Ala) variant details
- p.Glu14Ala
- gnomAD 4-113117360-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 19.40
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- Literature evidence available