R25I (p.Arg25Ile) variant of ANK2 (Ankyrin-2)
R25I (p.Arg25Ile) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R25I (p.Arg25Ile) variant details
- p.Arg25Ile
- gnomAD 4-113049802-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.51
- SIFT 0.00
- Population evidence available
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.122
- Literature evidence available