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Table 2 In silico prediction used to confirm the pathogenicity of the identified variant in PRUNE1

From: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

 Variant  Gene/genomic Position (hg19) Zygosity
   Patient Mother Father MutationTaster EXACT SIFT PROVEAN PolyPhen-2 Iranome FATHMM-MKL Varsome ACMG Classification
c.3G>A; p.(Met1?) PRUNE1
(chr1-150981111-G-A)
Hom Het Het Disease causing Damaging Neutral Probably
Damaging
Damaging Pathogenic Likely pathogenic