Table 1 Pathogenicity scores for PAX6, PITX3 and HSF4 Variants.

From: Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Gene

Genomic pos./Exon

HGVSc

HGVSp

Phenotype

CADD

GERP NR

MutationTaster/verdict

PAX6

Chr11/Ex7

c.184 G>A

p.V62M

Nuclear

27.6

5.3

Disease causing/0.81/Pathogenic/Novel

PITX3

Chr10/Ex4

c.470–477dup

p.A160R*

Nuclear

34

4.46

Disease causing/0.81/Pathogenic/Novel

HSF4

Chr16/Ex5

c.341 T>C

p.L114P

Congenital cataract

31

4.86

Disease causing/0.81/Likely pathogenic/Recurrent

  1. Combined annotation dependent depletion (CADD) is score for the deleteriousness of a variant. A CADD score >20 is considered damaging; genomic evolutionary rate profiling (GERP) NR corresponds to the neutral rate conservation score of the site.
  2. * designated to truncated protein.
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