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Table 1 The pathogenicity of (p. Leu198Arg) using several prediction tools in the family

From: Co-segregation of variant NSUN2 Lue198Arg among Iranian family with intellectual disability: a case report

Gene

NM

Exon

Alternation

Polyphen-2

Mutation Taster

MutPred

SIFT

Provean

DANN

CADD

ClinPred

REVEL

NSUN2

NM_017755.6

6

c.593 T > G; p.Leu198Arg,

D

D

D

D

D

D

D

D

D

  1. D: Damaging