Unclassified variant | Localization | MutationTaster prediction | Conservation across different species | ESEfinder prediction | Clinical classification according to family history |
---|---|---|---|---|---|
p.A154G | Transmembrane domain | Disease causing | conserved | Not affected | IPAH |
p.E386G | Serine/threonine kinase domain | Disease causing | conserved | SF2/ASF-& SRp40-site affected | IPAH |
p.D487V | Serine/threonine kinase domain | Disease causing | conserved | Not affected | PAH with familial history |