R23K (p.Arg23Lys) variant of ANK2 (Ankyrin-2)
R23K (p.Arg23Lys) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- Ensembl rs1580054974
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.02
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.279