R25G (p.Arg25Gly) variant of ANK2 (Ankyrin-2)
R25G (p.Arg25Gly) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- gnomAD 4-113049801-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.07
- CADD 24.90
- PolyPhen-2 0.18
- SIFT 0.01
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.122
- Literature evidence available