p.Ser8 Ser9del variant of ANK2 (Ankyrin-2)
p.Ser8 Ser9del in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Ser8 Ser9del variant details
- rs1299464401
- gnomAD 4-113145889-CTCTT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 17.20
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464
- Literature evidence available