R22R (p.Arg22Arg) variant of ANK2 (Ankyrin-2)
R22R (p.Arg22Arg) in ANK2 (Ankyrin-2) is a synonymous 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.
R22R (p.Arg22Arg) variant details
- p.Arg22Arg
- rs552815546
- gnomAD 4-113145919-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.80
- Most common in the African/African-American population (allele frequency 0.0024)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.158
- Literature evidence available