Table 1.

Scoring of PC1 variants for likely pathogenicity

VariantSIFTaSIFTbPolyPhenaAlignGVGDbConsensus
MGVSMGVSMGVSMGVSMG
V1045MC0.01C0.01N1.27NC0I
T1570MC0.01C0.02C1.55IC15C
R2220WB0B0B2.23CC35B
R3277CB0B0B2.65BC65B
  • MG, mutation group; B, highly likely; C, likely; I, indeterminate; N, neutral; VS, variant score.

  • aDefault alignment.

  • bPC1 ortholog alignment.