R22K (p.Arg22Lys) variant of ANK2 (Ankyrin-2)
R22K (p.Arg22Lys) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R22K (p.Arg22Lys) variant details
- p.Arg22Lys
- TOPMed rs1216511889
- gnomAD rs1216511889
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.09
- CADD 29.10
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.158