R23T (p.Arg23Thr) variant of ANK2 (Ankyrin-2)
R23T (p.Arg23Thr) in ANK2 (Ankyrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R23T (p.Arg23Thr) variant details
- p.Arg23Thr
- gnomAD 4-113049796-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.23
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.279
- Literature evidence available