1)PolyPhen2 scores close to 1 are likely to be pathogenic (highlighted in bold). HumDiv-trained Polyphen-2 assumes even mildly deleterious alleles as damaging to evaluate rare alleles potentially invo
Missense Non-synonymous single nucleotide polymorphisms (nsSNPs) of Galactose Mutarotase (GALM) are associated with the Novel type of Galactosemia (Galactosemia type 4) together with symptoms such as
