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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
  1. 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