K9S (p.Lys9Ser) variant of ANK2 (Ankyrin-2)
K9S (p.Lys9Ser) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K9S (p.Lys9Ser) variant details
- p.Lys9Ser
- gnomAD 4-112904509-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 28.90
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.409
- Literature evidence available