K9R (p.Lys9Arg) variant of ANK2 (Ankyrin-2)
K9R (p.Lys9Arg) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K9R (p.Lys9Arg) variant details
- p.Lys9Arg
- gnomAD 4-112904513-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 23.90
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.409
- Literature evidence available