K27E (p.Lys27Glu) variant of ANK2 (Ankyrin-2)
K27E (p.Lys27Glu) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- rs1439079045
- gnomAD 4-113145947-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.236
- Literature evidence available