Table 1 Conservation prediction of the two variants by bioinformational computer softwares
From: Identifying novel heterozygous PI4KA variants in fetal abnormalities
HGVS-c | Polyphen-2 _HDIV | LRT | Mutation Taster | CADD | FATHMM _MKL |
|---|---|---|---|---|---|
c.2819 C > T (p.Ala940Val) | Possibly _damaging | Deleterious | Disease _causing | Damaging | Damaging |