K28E (p.Lys28Glu) variant of ANK2 (Ankyrin-2)
K28E (p.Lys28Glu) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K28E (p.Lys28Glu) variant details
- p.Lys28Glu
- gnomAD 4-113049810-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.21
- CADD 25.40
- PolyPhen-2 0.16
- SIFT 0.04
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.225
- Literature evidence available