From: NRG1 variant effects in patients with Hirschsprung disease
Variant | GERP | PhyloP placental | PhyloP vertebrate | SiPhy |
c.397G > C (p.V133 L) | 4.26 (deleterious) | 1.55 (non-deleterious) | 1.799 (deleterious) | 10.121 (non-deleterious) |
rs7834206 | 0 | 0 | 0 | 0 |
rs3735774 | 5.15 | 2.894 | 0.784 | 9.461 |
rs75155858 | 4.71 | 1.321 | 3.472 | 10.265 |
Conservation scores interpretation: | ||||
Method | Deleterious cutoff | |||
GERP | > 2 | |||
PhyloP | > 1.6 | |||
SiPhy | > 12.17 |