RYR1 variant details of c.7291G>T p.(Asp2431Tyr)
| genomic | c.7291G>T |
| protein | p.(Asp2431Tyr) |
| exon | 45 |
| EMHG classification | Pathogenic |
| EMHG criteria | PSb PMb PPa PPb PPc |
| VCEP classification | Likely Pathogenic |
| VCEP criteria | PS3_Mod PS4_Mod PM1_Sup PM5_Sup PP1 PP3_Mod |