Table 2 Summary of three TNFAIP3 variants (results of analysis and the variant classification)
From: Functional analysis of novel A20 variants in patients with atypical inflammatory diseases
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 |