R25D (p.Arg25Asp) variant of ANK2 (Ankyrin-2)
R25D (p.Arg25Asp) in ANK2 (Ankyrin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R25D (p.Arg25Asp) variant details
- p.Arg25Asp
- gnomAD 4-113049796-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 23.80
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.122
- Literature evidence available