R22Q (p.Arg22Gln) variant of ANK2 (Ankyrin-2)
R22Q (p.Arg22Gln) 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.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs2094905822
- gnomAD 4-113117324-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 19.10
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.158
- Literature evidence available