Table 2.
Summary of three TNFAIP3 variants (results of analysis and the variant classification)
| TNFAIP3 variant | |||
|---|---|---|---|
| p.Glu192Lys | p.Ile310Thr | p.Gln709Arg | |
| Frequency in Europea | NA | 0.00002 | NA |
| Frequency in East Asiaa | NA | 0 | NA |
| Frequency in Japanb | NA | 0.0001 | NA |
| Polyphen-2 score | 0.999 | 0.063 | 0.046 |
| SIFT score | NA | 0.05 | 0.68 |
| CADD score | 32 | 22.6 | 11.04 |
| NF-κB reporter gene activityc | Not suppressed | Suppressed | Suppressed |
| Expression of proteinc | Not decreased | Mildly decreased | Not decreased |
| A20 Ser381 phosphorylationc | Not decreased | Not decreased | Not decreased |
| Deubiquitinase functionc | Retained | Retained | Retained |
| Variant classification | Likely pathogenic | Uncertain significance | Likely benign |
NA not available. aInformation of allele frequency was referred from gnomeAD v2.1.1. bInformation of allele frequency was referred from ToMMo 8.3KJPN. cResults were evaluated based on comparison with wild type