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Table 2 In silico predictions for the CRYAA variants

From: Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

Variant Inheritance gnomAD Freq ACMG classification (criteria) GERP PhyloP100 CADD DANN FATHMM-MKL Mutation
Taster
Eigen In silico splicing prediction SIFT Align
GV-GD
c.520T > C; p.(*174Glnext*41) de novo None Likely pathogenic (PM2, PM4, PP3, PS2) 3.7899 2.87 15.34 0.8224 P
(0.7147)
B P
(0.6226)
No effect on splicing NA NA
c.521A > C; p.(*174Serext*41) de novo None Likely pathogenic (PM2, PM4, PP3, PS2) 3.7899 2.963 14.26 0.6924 P
(0.7147)
B P
(0.6226)
No effect on splicing NA NA
  1. Notes: Variants were numbered according to RefSeq transcript NM_000394.4 for CRYAA.
  2. B benign, NA not available, P pathogenic
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