Table 2 TRAPPC11 variants and frequency for the newly-reported alleles.

From: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Subject

Variant

Allele frequency

CADD v1.3

S1

NM_021942.5: c.1287 + 5G > A: p.Ala372_Ser429del

15/282698 (gnomAD)

3/121132 (ExAC)

15.64

S1

NM_021942.5:c.3379_3380insT: p.Asp1127Valfs*47

0 (gnomAD)

0 (ExAC)

35.0

S2

NM_021942.5:c.2938G > A; p.Gly980Arg

21/282732 (gnomAD)

5/121286 (ExAC)

34.0

S3

NM_021942.5:c.2938G > A; p.Gly980Arg

  1. The PHRED-like scaled C-score ranks a genetic variant relative to all possible substitutions of the human genome. A scaled C-score of 20 or greater indicates that the variant is amongst the 1% most deleterious substitutions24.
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