E14K (p.Glu14Lys) variant of ANK2 (Ankyrin-2)
E14K (p.Glu14Lys) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs1380933071
- gnomAD 4-113117326-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 19.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 8.1e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.31
- Literature evidence available