p.Asp5 Ala6delinsGlu variant of ANK2 (Ankyrin-2)
p.Asp5 Ala6delinsGlu in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Asp5 Ala6delinsGlu variant details
- gnomAD 4-113049742-ATGC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.143
- Literature evidence available