p.Glu4delinsAspSer variant of ANK2 (Ankyrin-2)
p.Glu4delinsAspSer in ANK2 (Ankyrin-2) is a missense 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.
p.Glu4delinsAspSer variant details
- gnomAD 4-113049739-A-ACT
- Protein Altering
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.0751
- Literature evidence available