Effect of Ensembl and RefSeq sources on Polyphen and SIFT scores

You can create a custom annotation set with Polyphen and SIFT scores. When you use the scores in an annotation set, ensure that you use the corresponding RefSeq or Ensembl® gene models.

  • Functional scores v21 is for the gene model GRCh38 Ensembl® 108.

  • Functional scores v20 is for the gene model GRCh38 RefSeq 210.

  • Functional scores v19 is for the gene model hg19 Ensembl® 108.

  • Functional scores v18 is for the gene model hg19 RefSeq 210.

  • Functional scores v17 is for the gene model GRCh38 Ensembl® 103.

  • Functional scores v16 is for the gene model hg19 Ensembl® 103.

  • Functional scores v15 is for the gene model versions RefSeq 201 and Ensembl® 100.

  • Functional scores v14 is for the gene model versions RefSeq 201 and Ensembl® 100.

  • Functional scores v13 is for the gene model versions RefSeq 99 and Ensembl® 99.

  • Functional scores v12 is for the gene model versions RefSeq 98 and Ensembl® 99.

  • Functional scores v11 is for the gene model versions RefSeq 95 and Ensembl® 97.

  • Functional scores v10 is for the gene model versions RefSeq 95 and Ensembl® 97.

  • Functional scores v9 is for the gene model versions RefSeq 89 and Ensembl® 92.

  • Functional scores v8 is for the gene model versions RefSeq 89 and Ensembl® 92.

  • Functional scores v7 is for the gene model versions RefSeq 83 and Ensembl® 90.

  • Functional Scores v6 is for the gene model versions RefSeq 77 and Ensembl® 84.

  • Functional Scores v5 is for the gene model versions RefSeq 72 and Ensembl® 79.

  • Functional Scores v4 is for the gene model versions RefSeq 63 and Ensembl® 74.

  • Functional scores v3 is for the gene model versions RefSeq 53 and Ensembl® 65.

For more information, see Create annotation set workflow presets.