환자의 돌연변이는 또한 병원성 효과가 있는 것으로 간주되었으며, 이는 아미노산 치환 효과에 대한인 실리코 분석에 의해 예측되었다.
The mutation of the patient was also regarded to have a pathogenic effect, which was predicted by in silico analysis of the effect of amino acid substitution.