R22S (p.Arg22Ser) variant of ANK2 (Ankyrin-2)
R22S (p.Arg22Ser) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R22S (p.Arg22Ser) variant details
- p.Arg22Ser
- rs552815546
- gnomAD 4-113145919-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.158
- Literature evidence available